A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064605



Internal ID18807136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18888903..19017374hg38UCSC Ensembl
Innerchr22:18876416..19004887hg19UCSC Ensembl
Innerchr22:17256416..17384887hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38128472
hg19128472
hg18128472
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4473n100
Supporting Variantsnssv3590543, nssv3590542, nssv3731814
Samples
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064605
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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