A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133514



Internal ID19247711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62665648..62666248hg38UCSC Ensembl
Outerchr20:61297000..61297600hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969076
SamplesKWS2
Known GenesLOC100127888, SLCO4A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133514
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