A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023701



Internal ID17888318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:48969389..48973471hg38UCSC Ensembl
Innerchr15:49261586..49265668hg19UCSC Ensembl
Innerchr15:47048878..47052960hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384083
hg194083
hg184083
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974571
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2023701
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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