A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551147



Internal ID17805852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68283539..68285669hg38UCSC Ensembl
Innerchr9:70898455..70900585hg19UCSC Ensembl
Innerchr9:70088275..70090405hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg382131
hg192131
hg182131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982302
Supporting Variants
SamplesHGDP00778
Known GenesCBWD3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2551147
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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