A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961788



Internal ID18250348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70803619..70808943hg38UCSC Ensembl
Innerchr2:71030751..71036075hg19UCSC Ensembl
Innerchr2:70884259..70889583hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385325
hg195325
hg185325
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2174795, nssv2174798, nssv2174796, nssv2174803, nssv2174801, nssv2174797, nssv2174799, nssv2174802, nssv2174794, nssv2174800
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLEC4F
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961788
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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