A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv947456



Internal ID18594304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187326199..187334617hg38UCSC Ensembl
Innerchr1:187295331..187303749hg19UCSC Ensembl
Innerchr1:185561954..185570372hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg388419
hg198419
hg188419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2766108
SamplesHGDP01284
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv947456
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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