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dbVar

Database of genomic structural variation

nsv6315417

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:3,474,296

Description:GRCh37/hg19 5q12.1-12.3(chr5:59783655-63257950)x1 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: 8238 SVs from 108 studies. See in: genome view

Remapped(Score: Perfect):60,487,828-63,962,123

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6315417	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	60,487,828	63,962,123
nsv6315417	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	59,783,655	63,257,950

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17977116	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002285073.1, VCV001706518.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17977116	Remapped	Perfect	NC_000005.10:g.(60 487828_?)_(?_63962 123)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	60,487,828	63,962,123
nssv17977116	Submitted genomic		NC_000005.9:g.(597 83655_?)_(?_632579 50)del	GRCh37 (hg19)		NC_000005.9	Chr5	59,783,655	63,257,950

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
nssv17977116	GRCh37: NC_000005.9:g.(59783655_?)_(?_63257950)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002285073.1, VCV001706518.1	1

No genotype data were submitted for this variant

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