A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674468



Internal ID15411120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30156143..30258366hg38UCSC Ensembl
Innerchr12:30309076..30411299hg19UCSC Ensembl
Innerchr12:30200343..30302566hg18UCSC Ensembl
Innerchr12:30200343..30302566hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38102224
hg19102224
hg18102224
hg17102224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516421
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674468
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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