A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696977



Internal ID15086943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47972666..47995462hg38UCSC Ensembl
Innerchr12:48366449..48389245hg19UCSC Ensembl
Innerchr12:46652716..46675512hg18UCSC Ensembl
Innerchr12:46652716..46675512hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3822797
hg1922797
hg1822797
hg1722797
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519659
Supporting Variants
Samples
Known GenesCOL2A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696977
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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