A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064425



Internal ID19153644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:15471515..15922838hg38UCSC Ensembl
Innerchr22:16055171..16506448hg19UCSC Ensembl
Innerchr22:14435171..14886448hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38451324
hg19451278
hg18451278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4451n100
Supporting Variantsnssv3589211, nssv3589212, nssv3731766, nssv3589213
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064425
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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