A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2025599



Internal ID17834929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55190767..55191267hg38UCSC Ensembl
Innerchr15:55482965..55483465hg19UCSC Ensembl
Innerchr15:53270257..53270757hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976937
Supporting Variants
SamplesHGDP00998
Known GenesRSL24D1
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)nssv2025599
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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