A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961644



Internal ID18596890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130429531..130436108hg38UCSC Ensembl
Innerchr2:131187104..131193681hg19UCSC Ensembl
Innerchr2:130903574..130910151hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg386578
hg196578
hg186578
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2671095, nssv2671096, nssv2671098, nssv2671100, nssv2671097, nssv2671093, nssv2671101, nssv2671094, nssv2671099, nssv2671102
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCYP4F62P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961644
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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