A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1755166



Internal ID17827357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19282774..19286791hg38UCSC Ensembl
Innerchr1:19609268..19613285hg19UCSC Ensembl
Innerchr1:19481855..19485872hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384018
hg194018
hg184018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945807
Supporting Variants
SamplesHGDP00998
Known GenesAKR7A3
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)nssv1755166
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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