A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974085



Internal ID18262612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44938893..44941061hg38UCSC Ensembl
Innerchr13:45513028..45515196hg19UCSC Ensembl
Innerchr13:44411028..44413196hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg382169
hg192169
hg182169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962559, nssv1962566, nssv1962565, nssv1962567, nssv1962560, nssv1962563, nssv1962564, nssv1962562, nssv1962561, nssv1962558
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNUFIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974085
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