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dbVar

Database of genomic structural variation

nsv6314612

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XX;t(9;19)(q22.3;q13.1)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016, Styne et al. 2017

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: 61 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):96,045,206-96,045,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	96,045,206	96,045,206	+
nsv6314612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	96,045,209	96,045,209	+
nsv6314612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,472,137	38,472,137	+
nsv6314612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,472,144	38,472,144	+
nsv6314612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	98,807,488	98,807,488	+
nsv6314612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	98,807,491	98,807,491	+
nsv6314612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	38,962,777	38,962,777	+
nsv6314612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	38,962,784	38,962,784	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975969	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal facial shape; Abnormal facial shape; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Behavioral abnormality; Erythematous papule; Erythematous papule; Global developmental delay; Global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Pustule; Pustule; Skin rash; Skin rash	Uncertain significance	ClinVar	RCV000258757.1, VCV000267844.1
nssv17975970	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal facial shape; Abnormal facial shape; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Behavioral abnormality; Erythematous papule; Erythematous papule; Global developmental delay; Global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Pustule; Pustule; Skin rash; Skin rash	Uncertain significance	ClinVar	RCV000258757.1, VCV000267844.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975969	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	96,045,206	96,045,206	+
nssv17975970	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	96,045,209	96,045,209	+
nssv17975970	Remapped	Perfect	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,472,137	38,472,137	+
nssv17975969	Remapped	Perfect	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,472,144	38,472,144	+
nssv17975969	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	98,807,488	98,807,488	+
nssv17975970	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	98,807,491	98,807,491	+
nssv17975970	Submitted genomic		GRCh37 (hg19)		NC_000019.9	Chr19	38,962,777	38,962,777	+
nssv17975969	Submitted genomic		GRCh37 (hg19)		NC_000019.9	Chr19	38,962,784	38,962,784	+

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
nssv17975969	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal facial shape; Abnormal facial shape; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Behavioral abnormality; Erythematous papule; Erythematous papule; Global developmental delay; Global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Pustule; Pustule; Skin rash; Skin rash	Uncertain significance	ClinVar	RCV000258757.1, VCV000267844.1
nssv17975970	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal facial shape; Abnormal facial shape; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Atypical behavior; Behavioral abnormality; Erythematous papule; Erythematous papule; Global developmental delay; Global developmental delay; Obesity; Obesity; Obesity; Obesity due to melanocortin 4 receptor deficiency; Pustule; Pustule; Skin rash; Skin rash	Uncertain significance	ClinVar	RCV000258757.1, VCV000267844.1

No genotype data were submitted for this variant

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