A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138514



Internal ID19255831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173585308..173585651hg38UCSC Ensembl
Outerchr5:173012311..173012654hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3218n106
Supporting Variantsnssv3991098
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138514
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer