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dbVar

Database of genomic structural variation

nsv6636392

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:697,544

Description:GRCh37/hg19 5q35.3(chr5:178947702-179645244)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: 2752 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):179,520,701-180,218,244

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636392	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,520,701	180,218,244
nsv6636392	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	285,253	673,059
nsv6636392	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	178,947,702	179,645,244

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18328915	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002474901.1, VCV001809056.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18328915	Remapped	Pass	NW_016107298.1:g.( ?_285253)_(673059_ ?)dup	GRCh38.p12	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	285,253	673,059
nssv18328915	Remapped	Perfect	NC_000005.10:g.(?_ 179520701)_(180218 244_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,520,701	180,218,244
nssv18328915	Submitted genomic		NC_000005.9:g.(?_1 78947702)_(1796452 44_?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	178,947,702	179,645,244

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
nssv18328915	GRCh37: NC_000005.9:g.(?_178947702)_(179645244_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002474901.1, VCV001809056.1	3

No genotype data were submitted for this variant

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