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dbVar

Database of genomic structural variation

nsv984568

Organism: Homo sapiens

Study:nstd91 (Sallustio et al. 2014)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:36,417

Publication(s):Sallustio et al. 2014

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: 455 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):21,609,944-21,646,360

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv984568	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	21,609,944	21,646,360
nsv984568	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_016107297.1	Chr5\|NW_01 6107297.1	259,084	295,500
nsv984568	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	21,610,053	21,646,469
nsv984568	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000005.8	Chr5	21,645,810	21,682,226

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv3217104	copy number gain	SNP array	SNP genotyping analysis	Glomerulonephritis, IGA	association	Submitter

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv3217104	Remapped	Perfect	NW_016107297.1:g.( 259084_?)_(?_29550 0)dup	GRCh38.p12	Second Pass	NW_016107297.1	Chr5\|NW_01 6107297.1	259,084	295,500
nssv3217104	Remapped	Perfect	NC_000005.10:g.(21 609944_?)_(?_21646 360)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	21,609,944	21,646,360
nssv3217104	Remapped	Perfect	NC_000005.9:g.(216 10053_?)_(?_216464 69)dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	21,610,053	21,646,469
nssv3217104	Submitted genomic		NC_000005.8:g.(216 45810_?)_(?_216822 26)dup	NCBI36 (hg18)		NC_000005.8	Chr5	21,645,810	21,682,226

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv3217104	NCBI36: NC_000005.8:g.(21645810_?)_(?_21682226)dup	copy number gain	Glomerulonephritis, IGA	association	Submitter

No genotype data were submitted for this variant

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