A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516617



Internal ID15443910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57378497..57421679hg38UCSC Ensembl
Innerchr20:55953553..55996735hg19UCSC Ensembl
Innerchr20:55386960..55430141hg18UCSC Ensembl
Innerchr20:55386960..55430141hg17UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3843183
hg1943183
hg1843182
hg1743182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676692, nssv669600
Samples
Known GenesMIR5095, RBM38
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516617
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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