A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2756881



Internal ID17484932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53503642..53514027hg38UCSC Ensembl
Innerchr12:53897426..53907811hg19UCSC Ensembl
Innerchr12:52183693..52194078hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3810386
hg1910386
hg1810386
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983486
Supporting Variants
SamplesHGDP00998
Known GenesATF7, LOC100652999, NPFF, TARBP2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2756881
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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