A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963611



Internal ID18598852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:66243191..66250406hg38UCSC Ensembl
Innerchr2:66470323..66477538hg19UCSC Ensembl
Innerchr2:66323827..66331042hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387216
hg197216
hg187216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2175446, nssv2175455, nssv2175454, nssv2175450, nssv2175452, nssv2175447, nssv2175453, nssv2175448, nssv2175451, nssv2175449
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)nsv963611
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