A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2026187



Internal ID17484889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:57714425..57715966hg38UCSC Ensembl
Innerchr15:58006623..58008164hg19UCSC Ensembl
Innerchr15:55793915..55795456hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv984076
Supporting Variants
SamplesHGDP00998
Known GenesGCOM1, POLR2M
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2026187
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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