A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551451



Internal ID17806299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:65670621..65717292hg38UCSC Ensembl
Innerchr9:70448753..70495424hg19UCSC Ensembl
Innerchr9:69688573..69735244hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3846672
hg1946672
hg1846672
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982299
Supporting Variants
SamplesHGDP00778
Known GenesCBWD3, CBWD5
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)nssv2551451
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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