A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981395



Internal ID19206447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39952747..39953247hg38UCSC Ensembl
Outerchr17:38109000..38109500hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144800
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981395
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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