A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961906



Internal ID18250466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166275887..166277249hg38UCSC Ensembl
Innerchr2:167132397..167133759hg19UCSC Ensembl
Innerchr2:166840643..166842005hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381363
hg191363
hg181363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2209688, nssv2209691, nssv2209693, nssv2209687, nssv2209686, nssv2209689, nssv2209692, nssv2209690, nssv2209695, nssv2209694
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSCN9A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961906
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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