A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137532



Internal ID19259427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:139676115..139676615hg38UCSC Ensembl
Outerchr5:139055700..139056200hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990035
SamplesKWS2
Known GenesCXXC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137532
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