A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764857



Internal ID17844966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48495439..48499577hg38UCSC Ensembl
Innerchr1:48961111..48965249hg19UCSC Ensembl
Innerchr1:48733698..48737836hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg384139
hg194139
hg184139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945932
Supporting Variants
SamplesHGDP01029
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)nssv1764857
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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