A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2029933



Internal ID17488053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:72377749..72381428hg38UCSC Ensembl
Innerchr15:72670090..72673769hg19UCSC Ensembl
Innerchr15:70457144..70460823hg18UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg383680
hg193680
hg183680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984090
Supporting Variants
SamplesHGDP00998
Known GenesHEXA-AS1
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)nssv2029933
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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