A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992813



Internal ID18894063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62509439..62511339hg38UCSC Ensembl
Outerchr17:60586800..60588700hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141308
Supporting Variants
SamplesKWS2
Known GenesTLK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992813
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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