A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2367624



Internal ID17743682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:84997203..85000693hg38UCSC Ensembl
Innerchr5:84293021..84296511hg19UCSC Ensembl
Innerchr5:84328777..84332267hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg383491
hg193491
hg183491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968959
Supporting Variants
SamplesHGDP00456
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)nssv2367624
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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