A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700995



Internal ID15437647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46935600..47074956hg38UCSC Ensembl
Innerchr2:47162739..47302095hg19UCSC Ensembl
Innerchr2:47016243..47155599hg18UCSC Ensembl
Innerchr2:47074390..47213746hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38139357
hg19139357
hg18139357
hg17139357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524970
Supporting Variants
Samples
Known GenesMCFD2, TTC7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700995
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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