A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961772



Internal ID18597018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48912826..48915582hg38UCSC Ensembl
Innerchr2:49139965..49142721hg19UCSC Ensembl
Innerchr2:48993469..48996225hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382757
hg192757
hg182757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171605, nssv2171601, nssv2171602, nssv2171606, nssv2171598, nssv2171600, nssv2171603, nssv2171599, nssv2171604, nssv2171597
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)nsv961772
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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