A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517172



Internal ID15444465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53659913..53672704hg38UCSC Ensembl
Innerchr20:52276452..52289243hg19UCSC Ensembl
Innerchr20:51709859..51722650hg18UCSC Ensembl
Innerchr20:51709859..51722650hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3812792
hg1912792
hg1812792
hg1712792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv688592, nssv678417, nssv675296, nssv653435, nssv682962, nssv677452, nssv672227, nssv672568, nssv683509, nssv669807, nssv686565, nssv681647, nssv689872, nssv684209, nssv673851, nssv654258, nssv658739, nssv689130, nssv655862, nssv668513, nssv662733, nssv653925, nssv676610, nssv652744, nssv692151, nssv652870, nssv669216, nssv663623, nssv690644, nssv684334, nssv693532, nssv683996, nssv683400, nssv693803, nssv662686, nssv654807, nssv652963, nssv688107, nssv667751, nssv658474, nssv676809, nssv691190
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517172
Frequency
Sample Size2026
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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