A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968708



Internal ID18257250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:77717473..77721497hg38UCSC Ensembl
Innerchr9:80332389..80336413hg19UCSC Ensembl
Innerchr9:79522209..79526233hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg384025
hg194025
hg184025
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2554569, nssv2554565, nssv2554567, nssv2554568, nssv2554572, nssv2554573, nssv2554566, nssv2554574, nssv2554570, nssv2554571
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGNAQ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968708
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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