A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1759382



Internal ID17869014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34795129..34795810hg38UCSC Ensembl
Innerchr1:35260730..35261411hg19UCSC Ensembl
Innerchr1:35033317..35033998hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38682
hg19682
hg18682
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945876
Supporting Variants
SamplesHGDP01284
Known GenesGJA4
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)nssv1759382
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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