A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061433



Internal ID18803964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:22655329..23306920hg38UCSC Ensembl
Innerchr22:22997799..23649107hg19UCSC Ensembl
Innerchr22:21327799..21979107hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38651592
hg19651309
hg18651309
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3588911, nssv3733132
Samples
Known GenesBCR, FBXW4P1, GNAZ, IGLL5, MIR650, RAB36, RTDR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061433
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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