A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947468



Internal ID18247629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220114634..220119407hg38UCSC Ensembl
Innerchr1:220287976..220292749hg19UCSC Ensembl
Innerchr1:218354599..218359372hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384774
hg194774
hg184774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765368
SamplesHGDP00521
Known GenesIARS2, MIR194-1, MIR215, RNU5F-1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947468
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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