A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690340



Internal ID15080306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21119368..21152364hg38UCSC Ensembl
Innerchr12:21272302..21305298hg19UCSC Ensembl
Innerchr12:21163569..21196565hg18UCSC Ensembl
Innerchr12:21163569..21196565hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3832997
hg1932997
hg1832997
hg1732997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515735
Supporting Variants
Samples
Known GenesSLCO1B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690340
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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