A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961872



Internal ID18597118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113284260..113304064hg38UCSC Ensembl
Innerchr2:114041837..114061641hg19UCSC Ensembl
Innerchr2:113758307..113778111hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3819805
hg1919805
hg1819805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2199326, nssv2199322, nssv2199328, nssv2199325, nssv2199319, nssv2199327, nssv2199320, nssv2199324, nssv2199323, nssv2199321
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)nsv961872
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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