A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963217



Internal ID18251772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28301717..28308589hg38UCSC Ensembl
Innerchr2:28524584..28531456hg19UCSC Ensembl
Innerchr2:28378088..28384960hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg386873
hg196873
hg186873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167538, nssv2167543, nssv2167540, nssv2167534, nssv2167537, nssv2167541, nssv2167535, nssv2167539, nssv2167536, nssv2167542
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesBRE, LOC100505716
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963217
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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