A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769181



Internal ID17870066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58994961..59003663hg38UCSC Ensembl
Innerchr1:59460633..59469335hg19UCSC Ensembl
Innerchr1:59233221..59241923hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg388703
hg198703
hg188703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945972
Supporting Variants
SamplesHGDP01284
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)nssv1769181
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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