A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135506



Internal ID18921163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67731238..67731514hg38UCSC Ensembl
Outerchr17:65727354..65727630hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1499n106
Supporting Variantsnssv3989215, nssv3989061
SamplesKWS2, KWS1
Known GenesNOL11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135506
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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