A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994611



Internal ID18869292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50827276..50830642hg38UCSC Ensembl
Outerchr19:51330532..51333898hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383367
hg193367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143907
Supporting Variants
SamplesKWS1
Known GenesKLK15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994611
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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