A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2377032



Internal ID17786987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:133001016..133003691hg38UCSC Ensembl
Innerchr5:132336708..132339383hg19UCSC Ensembl
Innerchr5:132364607..132367282hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg382676
hg192676
hg182676
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980725
Supporting Variants
SamplesHGDP00665
Known GenesZCCHC10
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)nssv2377032
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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