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dbVar

Database of genomic structural variation

nsv6314503

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;X;inv(X)(q27q28) AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 81 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):136,218,217-136,218,217

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	136,218,217	136,218,217	+
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	136,218,318	136,218,318	-
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,156,963	155,156,963	-
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,161,766	155,161,766	+
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	694,418	694,418	+
nsv6314503	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	737,922	737,922	+
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	135,300,376	135,300,376	+
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	135,300,477	135,300,477	-
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	154,385,238	154,385,238	-
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	154,390,041	154,390,041	+
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	655,153	655,153	+
nsv6314503	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	698,657	698,657	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975406	intrachromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1
nssv17975407	intrachromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1
nssv17975408	intrachromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975406	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	694,418	694,418	+
nssv17975407	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	737,922	737,922	+
nssv17975406	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	136,218,217	136,218,217	+
nssv17975408	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	136,218,318	136,218,318	-
nssv17975407	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,156,963	155,156,963	-
nssv17975408	Remapped	Perfect	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,161,766	155,161,766	+
nssv17975406	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	655,153	655,153	+
nssv17975407	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	698,657	698,657	+
nssv17975406	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	135,300,376	135,300,376	+
nssv17975408	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	135,300,477	135,300,477	-
nssv17975407	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	154,385,238	154,385,238	-
nssv17975408	Submitted genomic		GRCh37 (hg19)		NC_000023.10	ChrX	154,390,041	154,390,041	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975406	intrachromosomal translocation	unknown	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1
nssv17975407	intrachromosomal translocation	unknown	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1
nssv17975408	intrachromosomal translocation	unknown	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Bipolar affective disorder; Bipolar affective disorder; Increased body weight; Increased body weight; Insulin resistance; Insulin resistance	Uncertain significance	ClinVar	RCV000258587.1, VCV000267971.1

No genotype data were submitted for this variant

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