A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947434



Internal ID18247596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:84869232..85128452hg38UCSC Ensembl
Innerchr1:85334915..85594135hg19UCSC Ensembl
Innerchr1:85107503..85366723hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38259221
hg19259221
hg18259221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2762673
SamplesHGDP01029
Known GenesLPAR3, MCOLN2, MCOLN3, WDR63
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947434
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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