A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966193



Internal ID19238863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198804620..198806285hg38UCSC Ensembl
Outerchr1:198773749..198775414hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381666
hg191666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130275
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966193
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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