A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2036268



Internal ID17883378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82404453..82533038hg38UCSC Ensembl
Innerchr15:83073184..83201789hg19UCSC Ensembl
Innerchr15:80870239..80998844hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38128586
hg19128606
hg18128606
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984102
Supporting Variants
SamplesHGDP01307
Known GenesCSPG4P8, GOLGA6L20, GOLGA6L9, LOC727751, LOC80154, UBE2Q2P2, UBE2Q2P3
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)nssv2036268
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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