A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126069



Internal ID19282563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181253112..181254440hg38UCSC Ensembl
Outerchr5:180680112..180681440hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3244n106
Supporting Variantsnssv3984277
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126069
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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