A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2357732



Internal ID17804602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61389795..61392210hg38UCSC Ensembl
Innerchr5:60685622..60688037hg19UCSC Ensembl
Innerchr5:60721379..60723794hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980649
Supporting Variants
SamplesHGDP00778
Known GenesZSWIM6
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)nssv2357732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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