A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551083



Internal ID17781809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68238951..68282900hg38UCSC Ensembl
Innerchr9:70853867..70897816hg19UCSC Ensembl
Innerchr9:70043687..70087636hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3843950
hg1943950
hg1843950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv982301
Supporting Variants
SamplesHGDP00665
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)nssv2551083
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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