A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2357904



Internal ID17805050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62214685..62252426hg38UCSC Ensembl
Innerchr5:61510512..61548253hg19UCSC Ensembl
Innerchr5:61546269..61584010hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3837742
hg1937742
hg1837742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv964860
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv2357904
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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