A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704380



Internal ID15094346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126558359..126561969hg38UCSC Ensembl
Innerchr12:127042905..127046515hg19UCSC Ensembl
Innerchr12:125608858..125612468hg18UCSC Ensembl
Innerchr12:125567785..125571395hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383611
hg193611
hg183611
hg173611
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515762
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704380
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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