A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972249



Internal ID19234047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35290910..35291015hg38UCSC Ensembl
Outerchr19:35781813..35781918hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123249
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972249
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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