A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133502



Internal ID19275787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25390464..25390964hg38UCSC Ensembl
Outerchr20:25371100..25371600hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969064
SamplesKWS2
Known GenesABHD12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133502
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