A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961387



Internal ID18596633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24330045..24332380hg38UCSC Ensembl
Innerchr2:24552914..24555249hg19UCSC Ensembl
Innerchr2:24406418..24408753hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382336
hg192336
hg182336
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2164785, nssv2164781, nssv2164780, nssv2164778, nssv2164782, nssv2164783, nssv2164784, nssv2164779, nssv2164786, nssv2164787
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesITSN2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961387
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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