A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138584



Internal ID18916722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78509047..78509229hg38UCSC Ensembl
Outerchr17:76505129..76505311hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955348, nssv3969973
SamplesKWS1, KWS2
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138584
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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