A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138498



Internal ID18939325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8840123..8840179hg38UCSC Ensembl
Outerchr17:8743440..8743496hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971094, nssv3991075
SamplesKWS2, KWS1
Known GenesPIK3R6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138498
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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