A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2520255



Internal ID17847923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137896..182124hg38UCSC Ensembl
Innerchr9:137896..182124hg19UCSC Ensembl
Innerchr9:127896..172124hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3844229
hg1944229
hg1844229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv972290
Supporting Variants
SamplesHGDP01029
Known GenesCBWD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2520255
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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