A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126460



Internal ID18903361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45307534..45496334hg38UCSC Ensembl
Outerchr17:43384900..43573700hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188801
hg19188801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1472n106
Supporting Variantsnssv3984709
SamplesKWS1
Known GenesARHGAP27, MAP3K14, MIR4315-1, MIR4315-2, PLEKHM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126460
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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