A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2760129



Internal ID17826674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98546506..98550452hg38UCSC Ensembl
Innerchr12:98940284..98944230hg19UCSC Ensembl
Innerchr12:97464415..97468361hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383947
hg193947
hg183947
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975655
Supporting Variants
SamplesHGDP00998
Known GenesTMPO
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2760129
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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