A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762737



Internal ID17488572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108783667..108787240hg38UCSC Ensembl
Innerchr12:109177443..109181016hg19UCSC Ensembl
Innerchr12:107701572..107705145hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg383574
hg193574
hg183574
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976026
Supporting Variants
SamplesHGDP00998
Known GenesSSH1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762737
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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