A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2032025



Internal ID17469276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:75677911..75708346hg38UCSC Ensembl
Innerchr15:75970252..76000687hg19UCSC Ensembl
Innerchr15:73757307..73787742hg18UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3830436
hg1930436
hg1830436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984092
Supporting Variants
SamplesHGDP00927
Known GenesCSPG4
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)nssv2032025
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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