A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947423



Internal ID18247585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30934204..30941567hg38UCSC Ensembl
Innerchr1:31407051..31414414hg19UCSC Ensembl
Innerchr1:31179638..31187001hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg387364
hg197364
hg187364
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766057
SamplesHGDP00998
Known GenesPUM1, SNORD103A, SNORD103B
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947423
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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