A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3599402



Internal ID18550997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:13237243..13268695hg38UCSC Ensembl
Innerchr20:13217890..13249342hg19UCSC Ensembl
Innerchr20:13165890..13197342hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3831453
hg1931453
hg1831453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058035
Supporting Variants
Samples
Known GenesISM1, ISM1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3599402
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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