A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682249



Internal ID15072215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143538013..143615483hg38UCSC Ensembl
Innerchr8:144620183..144697653hg19UCSC Ensembl
Innerchr8:144691326..144768796hg18UCSC Ensembl
Innerchr8:144691326..144768796hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3877471
hg1977471
hg1877471
hg1777471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516210
Supporting Variants
Samples
Known GenesEEF1D, GSDMD, MROH6, NAPRT1, PYCRL, TIGD5, TSTA3, ZC3H3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682249
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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