A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761368



Internal ID17483952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1770623..1775377hg38UCSC Ensembl
Innerchr12:1879789..1884543hg19UCSC Ensembl
Innerchr12:1750050..1754804hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384755
hg194755
hg184755
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973980
Supporting Variants
SamplesHGDP00998
Known GenesADIPOR2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761368
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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