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dbVar

Database of genomic structural variation

nsv3871867

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:39,597

Description:
See descriptions for individual calls in download files
Publication(s):Dobyns et al. 2018, Irahara et al. 2014

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: 165 SVs from 30 studies. See in: genome view

Submitted genomic39,428,731-39,468,327

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv3871867	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000001.11	Chr1	39,428,731	39,468,327
nsv3871867	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000001.10	Chr1	39,894,403	39,933,999

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15154888	deletion	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000714229.2, VCV000586952.4
nssv16091684	deletion	Multiple	Multiple	LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9	Pathogenic	ClinVar	RCV000855686.1, VCV000586952.4
nssv16736593	deletion	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV001291263.1, VCV000586952.4

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv15154888	Submitted genomic	NC_000001.11:g.394 28731_39468327del	GRCh38 (hg38)	NC_000001.11	Chr1	39,428,731	39,468,327
nssv16091684	Submitted genomic	NC_000001.11:g.394 28731_39468327del	GRCh38 (hg38)	NC_000001.11	Chr1	39,428,731	39,468,327
nssv16736593	Submitted genomic	NC_000001.11:g.394 28731_39468327del	GRCh38 (hg38)	NC_000001.11	Chr1	39,428,731	39,468,327
nssv15154888	Submitted genomic	NC_000001.10:g.398 94403_39933999del	GRCh37 (hg19)	NC_000001.10	Chr1	39,894,403	39,933,999
nssv16091684	Submitted genomic	NC_000001.10:g.398 94403_39933999del	GRCh37 (hg19)	NC_000001.10	Chr1	39,894,403	39,933,999
nssv16736593	Submitted genomic	NC_000001.10:g.398 94403_39933999del	GRCh37 (hg19)	NC_000001.10	Chr1	39,894,403	39,933,999

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15154888	GRCh37: NC_000001.10:g.39894403_39933999del, GRCh38: NC_000001.11:g.39428731_39468327del	deletion	germline	See cases	Pathogenic	ClinVar	RCV000714229.2, VCV000586952.4
nssv16091684	GRCh37: NC_000001.10:g.39894403_39933999del, GRCh38: NC_000001.11:g.39428731_39468327del	deletion	germline	LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION; LIS9	Pathogenic	ClinVar	RCV000855686.1, VCV000586952.4
nssv16736593	GRCh37: NC_000001.10:g.39894403_39933999del, GRCh38: NC_000001.11:g.39428731_39468327del	deletion	de novo	See cases	Likely pathogenic	ClinVar	RCV001291263.1, VCV000586952.4

No genotype data were submitted for this variant

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