A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137536



Internal ID19276693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154190340..154190840hg38UCSC Ensembl
Outerchr5:153569900..153570400hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990039
SamplesKWS2
Known GenesGALNT10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137536
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