A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2704959



Internal ID17751165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181417580..181420335hg38UCSC Ensembl
Innerchr5:180844581..180847336hg19UCSC Ensembl
Innerchr5:180777187..180779942hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382756
hg192756
hg182756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965050
Supporting Variants
SamplesHGDP00521
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2704959
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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