A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762274



Internal ID17383369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201308515..201540498hg38UCSC Ensembl
Innerchr1:201277643..201509626hg19UCSC Ensembl
Innerchr1:199544266..199776249hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38231984
hg19231984
hg18231984
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947466
Supporting Variants
SamplesHGDP00456
Known GenesCSRP1, LAD1, PHLDA3, PKP1, RPS10P7, TNNI1, TNNT2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762274
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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