A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004920



Internal ID19094137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833599..89222453hg38UCSC Ensembl
Innerchr2:89133112..89521934hg19UCSC Ensembl
Innerchr2:88914227..89303049hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38388855
hg19388823
hg18388823
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3932n100
Supporting Variantsnssv3728974, nssv3728973
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)nsv1004920
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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