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dbVar

Database of genomic structural variation

nsv984547

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:32,610

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: 486 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):73,740,650-73,773,259

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv984547	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	73,740,650	73,773,259
nsv984547	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000007.13	Chr7	73,154,980	73,187,589
nsv984547	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	1,269,886	1,302,495
nsv984547	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	72,792,916	72,825,525

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv3217166	copy number loss	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
nssv3217166	Remapped	Perfect	NC_000007.14:g.(73 740650_?)_(?_73773 259)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	73,740,650	73,773,259
nssv3217166	Remapped	Perfect	NW_003871064.1:g.( 1269886_?)_(?_1302 495)del	GRCh37.p13	First Pass	NW_003871064.1	Chr7\|NW_00 3871064.1	1,269,886	1,302,495
nssv3217166	Remapped	Perfect	NC_000007.13:g.(73 154980_?)_(?_73187 589)del	GRCh37.p13	Second Pass	NC_000007.13	Chr7	73,154,980	73,187,589
nssv3217166	Submitted genomic		NC_000007.12:g.(72 792916_?)_(?_72825 525)del	NCBI36 (hg18)		NC_000007.12	Chr7	72,792,916	72,825,525

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv3217166	NCBI36: NC_000007.12:g.(72792916_?)_(?_72825525)del	copy number loss	Glomerulonephritis, IGA	association	Submitter

No genotype data were submitted for this variant

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