A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2404037



Internal ID17427116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:30025056..30033766hg38UCSC Ensembl
Innerchr6:29992833..30001543hg19UCSC Ensembl
Innerchr6:30100812..30109522hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg388711
hg198711
hg188711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969374
Supporting Variants
SamplesHGDP00542
Known GenesZNRD1-AS1
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)nssv2404037
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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