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dbVar

Database of genomic structural variation

nsv6314261

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;inv(4)(q34.2q35.2).ish 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: 122 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):174,079,140-174,079,140

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	174,079,140	174,079,140	+
nsv6314261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	184,176,792	184,176,792	+
nsv6314261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	188,901,617	188,901,617	-
nsv6314261	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	188,920,643	188,920,643	+
nsv6314261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	175,000,291	175,000,291	+
nsv6314261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	185,097,945	185,097,945	+
nsv6314261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	189,822,771	189,822,771	-
nsv6314261	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	189,841,797	189,841,797	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975727	intrachromosomal translocation	Multiple	Multiple	Micrognathia; Micrognathia; Microtia; Microtia	Uncertain significance	ClinVar	RCV000258668.1, VCV000267946.1
nssv17975726	intrachromosomal translocation	Multiple	Multiple	Micrognathia; Micrognathia; Microtia; Microtia	Uncertain significance	ClinVar	RCV000258668.1, VCV000267946.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975727	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	174,079,140	174,079,140	+
nssv17975726	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	184,176,792	184,176,792	+
nssv17975726	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,901,617	188,901,617	-
nssv17975727	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	188,920,643	188,920,643	+
nssv17975727	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	175,000,291	175,000,291	+
nssv17975726	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	185,097,945	185,097,945	+
nssv17975726	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	189,822,771	189,822,771	-
nssv17975727	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	189,841,797	189,841,797	+

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
nssv17975727	intrachromosomal translocation	unknown	Micrognathia; Micrognathia; Microtia; Microtia	Uncertain significance	ClinVar	RCV000258668.1, VCV000267946.1
nssv17975726	intrachromosomal translocation	unknown	Micrognathia; Micrognathia; Microtia; Microtia	Uncertain significance	ClinVar	RCV000258668.1, VCV000267946.1

No genotype data were submitted for this variant

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