A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023904



Internal ID17839015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:49177464..49178651hg38UCSC Ensembl
Innerchr15:49469661..49470848hg19UCSC Ensembl
Innerchr15:47256953..47258140hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381188
hg191188
hg181188
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974573
Supporting Variants
SamplesHGDP00998
Known GenesGALK2
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)nssv2023904
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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