A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134596



Internal ID18932695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8829286..8829369hg38UCSC Ensembl
Outerchr17:8732603..8732686hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3954885, nssv3991073
SamplesKWS1, KWS2
Known GenesPIK3R6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134596
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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