A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1776384



Internal ID17870866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91023056..91024862hg38UCSC Ensembl
Innerchr1:91488613..91490419hg19UCSC Ensembl
Innerchr1:91261201..91263007hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381807
hg191807
hg181807
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946066
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)nssv1776384
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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