A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142905



Internal ID18904002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78474837..78474985hg38UCSC Ensembl
Outerchr17:76470919..76471067hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979369, nssv3988126
SamplesKWS1, KWS2
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142905
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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