A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971143



Internal ID19212378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:52862683..52862737hg38UCSC Ensembl
Outerchr17:50940043..50940097hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131332
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971143
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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