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dbVar

Database of genomic structural variation

nsv3905553

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,624,015

Description:
See descriptions for individual calls in download files

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: 6035 SVs from 110 studies. See in: genome view

Remapped(Score: Perfect):72,650,843-75,274,857

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905553	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	72,650,843	75,274,857
nsv3905553	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	72,943,184	75,567,198

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142430	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510609.2, VCV000443649.2	1
nssv16208428	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001006709.2, VCV000815734.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142430	Remapped	Perfect	NC_000015.10:g.(?_ 72650843)_(7527485 7_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,650,843	75,274,857
nssv16208428	Remapped	Perfect	NC_000015.10:g.(?_ 72650843)_(7527485 7_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	72,650,843	75,274,857
nssv15142430	Submitted genomic		NC_000015.9:g.(?_7 2943184)_(75567198 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	72,943,184	75,567,198
nssv16208428	Submitted genomic		NC_000015.9:g.(?_7 2943184)_(75567198 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	72,943,184	75,567,198

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
nssv15142430	GRCh37: NC_000015.9:g.(?_72943184)_(75567198_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000510609.2, VCV000443649.2	1
nssv16208428	GRCh37: NC_000015.9:g.(?_72943184)_(75567198_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001006709.2, VCV000815734.2	1

No genotype data were submitted for this variant

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