A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961027



Internal ID18596274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36936129..36938072hg38UCSC Ensembl
Innerchr2:37163272..37165215hg19UCSC Ensembl
Innerchr2:37016776..37018719hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381944
hg191944
hg181944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167823, nssv2167820, nssv2167822, nssv2167824, nssv2167821, nssv2167819, nssv2167817, nssv2167818, nssv2167815, nssv2167816
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTRN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961027
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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