A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764405



Internal ID17787741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:25803310..25806409hg38UCSC Ensembl
Innerchr12:25956244..25959343hg19UCSC Ensembl
Innerchr12:25847511..25850610hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383100
hg193100
hg183100
Variant TypeCNV duplication
Copy Number8
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973983
Supporting Variants
SamplesHGDP00665
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764405
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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