A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977099



Internal ID19247558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186637768..186641568hg38UCSC Ensembl
Outerchr1:186606900..186610700hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139511
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977099
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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