A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1762409



Internal ID17795047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42696401..42697030hg38UCSC Ensembl
Innerchr1:43162072..43162701hg19UCSC Ensembl
Innerchr1:42934659..42935288hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945906
Supporting Variants
SamplesHGDP00778
Known GenesYBX1
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)nssv1762409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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