A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3955458



Internal ID18861581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45004717..45004785hg38UCSC Ensembl
Outerchr19:45507975..45508043hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116334
Supporting Variants
SamplesKWS1
Known GenesRELB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3955458
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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