A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991074



Internal ID18887442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8829442..8829587hg38UCSC Ensembl
Outerchr17:8732759..8732904hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138497
Supporting Variants
SamplesKWS2
Known GenesPIK3R6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991074
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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