A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1772802



Internal ID17796045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:80450711..80453284hg38UCSC Ensembl
Innerchr1:80916396..80918969hg19UCSC Ensembl
Innerchr1:80688984..80691557hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382574
hg192574
hg182574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946015
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv1772802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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