A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961781



Internal ID18597027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63684308..63689779hg38UCSC Ensembl
Innerchr2:63911442..63916913hg19UCSC Ensembl
Innerchr2:63764946..63770417hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385472
hg195472
hg185472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173143, nssv2173146, nssv2173142, nssv2173144, nssv2173139, nssv2173147, nssv2173140, nssv2173141, nssv2173148, nssv2173145
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)nsv961781
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