A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974356



Internal ID18609567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81332540..81333325hg38UCSC Ensembl
Innerchr14:81798884..81799669hg19UCSC Ensembl
Innerchr14:80868637..80869422hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38786
hg19786
hg18786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1992521, nssv1992523, nssv1993320, nssv1993319, nssv1993317, nssv1992519, nssv1992520, nssv1993318, nssv1993316, nssv1992522
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTON2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974356
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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