A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966454



Internal ID19210978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30130714..30130807hg38UCSC Ensembl
Outerchr19:30621621..30621714hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123246
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966454
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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