A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109748



Internal ID18940256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176451770..176451843hg38UCSC Ensembl
Outerchr5:175878771..175878844hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958087
SamplesKWS1
Known GenesFAF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109748
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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