A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173677



Internal ID15526573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12714996..12854043hg38UCSC Ensembl
Innerchr1:12774999..12913896hg19UCSC Ensembl
Innerchr1:12697586..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38139048
hg19138898
hg18138898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545445
Supporting Variants
SamplesHGDP00153
Known GenesAADACL3, C1orf158, HNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173677
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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