A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961023



Internal ID18596270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30745852..30746939hg38UCSC Ensembl
Innerchr2:30968718..30969805hg19UCSC Ensembl
Innerchr2:30822222..30823309hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167634, nssv2167631, nssv2167640, nssv2167632, nssv2167633, nssv2167635, nssv2167639, nssv2167638, nssv2167637, nssv2167636
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCAPN13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961023
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer