A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993721



Internal ID18893945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5232348..5232400hg38UCSC Ensembl
Outerchr17:5135643..5135695hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142211
Supporting Variants
SamplesKWS2
Known GenesLOC100130950, SCIMP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993721
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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