A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961503



Internal ID18596749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121728929..121732207hg38UCSC Ensembl
Innerchr2:122486505..122489783hg19UCSC Ensembl
Innerchr2:122202975..122206253hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383279
hg193279
hg183279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2201872, nssv2201879, nssv2201876, nssv2201873, nssv2201871, nssv2201877, nssv2201880, nssv2201875, nssv2201878, nssv2201874
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNIFK
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961503
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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