A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545997



Internal ID15986720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36227873..36329829hg38UCSC Ensembl
Innerchr1:36693474..36795430hg19UCSC Ensembl
Innerchr1:36466061..36568017hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38101957
hg19101957
hg18101957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712326
Samples
Known GenesEVA1B, SH3D21, THRAP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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