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dbVar

Database of genomic structural variation

nsv6290265

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:23,132,723

Description:GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 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: 60679 SVs from 134 studies. See in: genome view

Remapped(Score: Perfect):113,951,391-137,084,113

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6290265	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	113,951,391	137,084,113
nsv6290265	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	114,872,547	138,005,267

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17955989	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001795851.4, VCV001328453.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955989	Remapped	Perfect	NC_000004.12:g.113 951391_137084113de l	GRCh38.p12	First Pass	NC_000004.12	Chr4	113,951,391	137,084,113
nssv17955989	Submitted genomic		NC_000004.11:g.114 872547_138005267de l	GRCh37 (hg19)		NC_000004.11	Chr4	114,872,547	138,005,267

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
nssv17955989	GRCh37: NC_000004.11:g.114872547_138005267del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001795851.4, VCV001328453.4	1

No genotype data were submitted for this variant

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