A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999164



Internal ID19158700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833599..89245848hg38UCSC Ensembl
Innerchr2:89133112..89545331hg19UCSC Ensembl
Innerchr2:88914227..89326446hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38412250
hg19412220
hg18412220
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3932n100
Supporting Variantsnssv3728981, nssv3728980, nssv3728979, nssv3728975, nssv3728977, nssv3728978, nssv3728976
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999164
Frequency
Sample Size11257
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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