A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763246



Internal ID17833350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9764438..9772212hg38UCSC Ensembl
Innerchr12:9917034..9924808hg19UCSC Ensembl
Innerchr12:9808301..9816075hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387775
hg197775
hg187775
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975645
Supporting Variants
SamplesHGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763246
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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