A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961914



Internal ID18250474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177616554..177619167hg38UCSC Ensembl
Innerchr2:178481282..178483895hg19UCSC Ensembl
Innerchr2:178189528..178192141hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382614
hg192614
hg182614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2213387, nssv2213390, nssv2213393, nssv2213392, nssv2213395, nssv2213389, nssv2213396, nssv2213388, nssv2213391, nssv2213394
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTTC30A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961914
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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