A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2550548



Internal ID17804114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:63975361..63977698hg38UCSC Ensembl
Innerchr9:69219108..69221118hg19UCSC Ensembl
Innerchr9:68508928..68510938hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg382338
hg192011
hg182011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982291
Supporting Variants
SamplesHGDP00778
Known GenesCBWD6
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)nssv2550548
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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