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dbVar

Database of genomic structural variation

nsv3924397

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38, NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:99

Description:GRCh38/hg38 11p15.4(chr11:2883714-2883812)x3 AND See cases

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: 110 SVs from 31 studies. See in: genome view

Submitted genomic2,883,714-2,883,812

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3924397	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000011.10	Chr11	2,883,714	2,883,812
nsv3924397	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000011.9	Chr11	2,904,944	2,905,042
nsv3924397	Submitted genomic	NCBI36 (hg18)	Primary Assembly	NC_000011.8	Chr11	2,861,520	2,861,618

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15135269	copy number gain	Multiple	Multiple	See cases	conflicting data from submitters	ClinVar	RCV000136139.4, VCV000146916.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15135269	Submitted genomic	NC_000011.10:g.(?_ 2883714)_(2883812_ ?)dup	GRCh38 (hg38)	NC_000011.10	Chr11	2,883,714	2,883,812
nssv15135269	Submitted genomic	NC_000011.9:g.(?_2 904944)_(2905042_? )dup	GRCh37 (hg19)	NC_000011.9	Chr11	2,904,944	2,905,042
nssv15135269	Submitted genomic	NC_000011.8:g.(?_2 861520)_(2861618_? )dup	NCBI36 (hg18)	NC_000011.8	Chr11	2,861,520	2,861,618

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15135269	GRCh37: NC_000011.9:g.(?_2904944)_(2905042_?)dup, GRCh38: NC_000011.10:g.(?_2883714)_(2883812_?)dup, NCBI36: NC_000011.8:g.(?_2861520)_(2861618_?)dup	copy number gain	see ClinVar for details	See cases	conflicting data from submitters	ClinVar	RCV000136139.4, VCV000146916.2	3

No genotype data were submitted for this variant

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