A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961776



Internal ID18250336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54528333..54530052hg38UCSC Ensembl
Innerchr2:54755470..54757189hg19UCSC Ensembl
Innerchr2:54608974..54610693hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172157, nssv2172155, nssv2172160, nssv2172159, nssv2172161, nssv2172154, nssv2172156, nssv2172162, nssv2172153, nssv2172158
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL23AP32, SPTBN1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961776
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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