A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2014222



Internal ID17817288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27894286..27898677hg38UCSC Ensembl
Innerchr15:28139432..28143823hg19UCSC Ensembl
Innerchr15:25813027..25817418hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg384392
hg194392
hg184392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974536
Supporting Variants
SamplesHGDP00927
Known GenesOCA2
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)nssv2014222
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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