A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2762293



Internal ID17798836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7843169..7915838hg38UCSC Ensembl
Innerchr12:7995765..8068434hg19UCSC Ensembl
Innerchr12:7887032..7959701hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3872670
hg1972670
hg1872670
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975644
Supporting Variants
SamplesHGDP00778
Known GenesSLC2A14
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2762293
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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