A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065617



Internal ID18808148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20705383..21111546hg38UCSC Ensembl
Innerchr22:21059671..21465835hg19UCSC Ensembl
Innerchr22:19389671..19795835hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38406164
hg19406165
hg18406165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587382
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065617
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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