A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065610



Internal ID18808141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21486149hg38UCSC Ensembl
Innerchr22:21567219..21840438hg19UCSC Ensembl
Innerchr22:19897219..20170438hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38273220
hg19273220
hg18273220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3587411, nssv3731865
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065610
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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