A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150131



Internal ID19203214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:227504798..227507799hg38UCSC Ensembl
Outerchr1:227692499..227695500hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4003431
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150131
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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