A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700669



Internal ID15437321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:133570200..133575530hg38UCSC Ensembl
Innerchr2:134327771..134333101hg19UCSC Ensembl
Innerchr2:134044241..134049571hg18UCSC Ensembl
Innerchr2:134161503..134166833hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg385331
hg195331
hg185331
hg175331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516644
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700669
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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