A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961507



Internal ID18596753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128517370..128520450hg38UCSC Ensembl
Innerchr2:129274944..129278024hg19UCSC Ensembl
Innerchr2:128991414..128994494hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383081
hg193081
hg183081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2203316, nssv2202522, nssv2202521, nssv2203318, nssv2202520, nssv2202518, nssv2202517, nssv2202519, nssv2202523, nssv2203317
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961507
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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