A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961939



Internal ID18597185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234453673..234460718hg38UCSC Ensembl
Innerchr2:235362317..235369362hg19UCSC Ensembl
Innerchr2:235027056..235034101hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387046
hg197046
hg187046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225827, nssv2225824, nssv2225823, nssv2225825, nssv2225828, nssv2225826, nssv2225829, nssv2225832, nssv2225830, nssv2225831
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961939
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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