A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961871



Internal ID18597117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113187077..113187712hg38UCSC Ensembl
Innerchr2:113944654..113945289hg19UCSC Ensembl
Innerchr2:113661125..113661760hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2199226, nssv2199231, nssv2199224, nssv2199229, nssv2199223, nssv2199230, nssv2199222, nssv2199227, nssv2199225, nssv2199228
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPSD4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961871
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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