A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131929



Internal ID18939508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177158241..177158320hg38UCSC Ensembl
Outerchr5:176585242..176585321hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986546
SamplesKWS1
Known GenesNSD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131929
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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