A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994601



Internal ID19216709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1282201..1282901hg38UCSC Ensembl
Outerchr19:1282200..1282900hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143899
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994601
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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