A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2030400



Internal ID17423951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:75216954..75340338hg38UCSC Ensembl
Innerchr15:75509295..75632679hg19UCSC Ensembl
Innerchr15:73296348..73419732hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg38123385
hg19123385
hg18123385
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977736
Supporting Variants
SamplesHGDP00542
Known GenesCOMMD4, GOLGA6C, GOLGA6D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2030400
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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