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dbVar

Database of genomic structural variation

nsv3888674

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:21,144

Description:GRCh37/hg19 5q35.3(chr5:179219357-179240499)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: 146 SVs from 42 studies. See in: genome view

Remapped(Score: Good):179,792,356-179,813,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3888674	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	179,792,356	179,813,499
nsv3888674	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	557,933	579,054
nsv3888674	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	179,219,357	179,240,499

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15166679	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000745379.2, VCV000608743.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15166679	Remapped	Good	NW_016107298.1:g.( ?_557933)_(579054_ ?)del	GRCh38.p12	Second Pass	NW_016107298.1	Chr5\|NW_01 6107298.1	557,933	579,054
nssv15166679	Remapped	Good	NC_000005.10:g.(?_ 179792356)_(179813 499_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	179,792,356	179,813,499
nssv15166679	Submitted genomic		NC_000005.9:g.(?_1 79219357)_(1792404 99_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	179,219,357	179,240,499

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
nssv15166679	GRCh37: NC_000005.9:g.(?_179219357)_(179240499_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000745379.2, VCV000608743.2	1

No genotype data were submitted for this variant

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