A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1762039



Internal ID17828039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45176943..45195071hg38UCSC Ensembl
Innerchr1:45642615..45660743hg19UCSC Ensembl
Innerchr1:45415202..45433330hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3818129
hg1918129
hg1818129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945918
Supporting Variants
SamplesHGDP00998
Known GenesZSWIM5
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)nssv1762039
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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