A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961941



Internal ID18597187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238231537..238236869hg38UCSC Ensembl
Innerchr2:239140178..239145510hg19UCSC Ensembl
Innerchr2:238804917..238810249hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385333
hg195333
hg185333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2226201, nssv2226198, nssv2226199, nssv2226207, nssv2226204, nssv2226202, nssv2226206, nssv2226205, nssv2226203, nssv2226200
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC151174, LOC643387
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961941
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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