A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700728



Internal ID15437380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31246967..31311729hg38UCSC Ensembl
Innerchr12:31399901..31464663hg19UCSC Ensembl
Innerchr12:31291168..31355930hg18UCSC Ensembl
Innerchr12:31291168..31355930hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3864763
hg1964763
hg1864763
hg1764763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524737
Supporting Variants
Samples
Known GenesFAM60A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700728
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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