A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2554571



Internal ID17426448
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 StatusS
Merged Variantsnsv968708
Supporting Variants
SamplesHGDP00542
Known GenesGNAQ
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2554571
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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