A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976330



Internal ID18611536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35467865..35469832hg38UCSC Ensembl
Innerchr14:35937071..35939038hg19UCSC Ensembl
Innerchr14:35006822..35008789hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381968
hg191968
hg181968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1984985, nssv1984993, nssv1984992, nssv1984984, nssv1984986, nssv1984990, nssv1984991, nssv1984989, nssv1984988, nssv1984987
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)nsv976330
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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