A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698502



Internal ID15088468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30942847..30976195hg38UCSC Ensembl
Innerchr12:31095781..31129130hg19UCSC Ensembl
Innerchr12:30987048..31020397hg18UCSC Ensembl
Innerchr12:30987048..31020397hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3833349
hg1933350
hg1833350
hg1733350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522849
Supporting Variants
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698502
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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