A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116414



Internal ID19269230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67565464..67565696hg38UCSC Ensembl
Outerchr17:65561580..65561812hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978598
SamplesKWS1
Known GenesPITPNC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116414
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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