A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701044



Internal ID15437696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:142369096..142378457hg38UCSC Ensembl
Innerchr2:143126665..143136026hg19UCSC Ensembl
Innerchr2:142843135..142852496hg18UCSC Ensembl
Innerchr2:142960397..142969758hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg389362
hg199362
hg189362
hg179362
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516492
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701044
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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