A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984718



Internal ID19206013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68291159..68292059hg38UCSC Ensembl
Outerchr17:66287300..66288200hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126468
Supporting Variants
SamplesKWS1
Known GenesARSG, SLC16A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984718
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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