A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700220



Internal ID15090186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122860813..122865657hg38UCSC Ensembl
Innerchr12:123345360..123350204hg19UCSC Ensembl
Innerchr12:121911313..121916157hg18UCSC Ensembl
Innerchr12:121870240..121875084hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384845
hg194845
hg184845
hg174845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesHIP1R, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700220
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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