A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961394



Internal ID18596640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37193974..37195514hg38UCSC Ensembl
Innerchr2:37421117..37422657hg19UCSC Ensembl
Innerchr2:37274621..37276161hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381541
hg191541
hg181541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167947, nssv2167950, nssv2167952, nssv2167951, nssv2167948, nssv2167953, nssv2167954, nssv2167946, nssv2167949, nssv2167955
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)nsv961394
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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