A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960376



Internal ID19223891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198034470..198037870hg38UCSC Ensembl
Outerchr1:198003600..198007000hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128495
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960376
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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