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dbVar

Database of genomic structural variation

nsv3895187

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,042,021

Description:GRCh37/hg19 7p14.1(chr7:37213108-40255122)x3 AND not provided

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: 8860 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):37,173,503-40,215,523

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895187	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	37,173,503	40,215,523
nsv3895187	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	37,213,108	40,255,122

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15166972	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000746632.2, VCV000609996.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15166972	Remapped	Perfect	NC_000007.14:g.(?_ 37173503)_(4021552 3_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	37,173,503	40,215,523
nssv15166972	Submitted genomic		NC_000007.13:g.(?_ 37213108)_(4025512 2_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	37,213,108	40,255,122

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
nssv15166972	GRCh37: NC_000007.13:g.(?_37213108)_(40255122_?)dup	copy number gain	maternal	not provided	Pathogenic	ClinVar	RCV000746632.2, VCV000609996.2	3

No genotype data were submitted for this variant

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