A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2389075



Internal ID17776264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178866066..178866566hg38UCSC Ensembl
Innerchr5:178293067..178293567hg19UCSC Ensembl
Innerchr5:178225673..178226173hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964987
Supporting Variants
SamplesHGDP00542
Known GenesZNF354B
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)nssv2389075
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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