A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973983



Internal ID18609196
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2764405, nssv2764553
SamplesHGDP00665, HGDP00998
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973983
Frequency
Sample Size10
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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