A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682442



Internal ID15419094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128403981..128410363hg38UCSC Ensembl
Innerchr7:128044035..128050417hg19UCSC Ensembl
Innerchr7:127831271..127837653hg18UCSC Ensembl
Innerchr7:127637986..127644368hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg386383
hg196383
hg186383
hg176383
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515737
Supporting Variants
Samples
Known GenesIMPDH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682442
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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