A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698769



Internal ID15088735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123076184..123110616hg38UCSC Ensembl
Innerchr12:123560731..123595163hg19UCSC Ensembl
Innerchr12:122126684..122161116hg18UCSC Ensembl
Innerchr12:122085611..122120043hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3834433
hg1934433
hg1834433
hg1734433
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesLOC100507091, PITPNM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698769
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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