A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv951700



Internal ID15898970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19086099..19839117hg38UCSC Ensembl
Innerchr22:19073612..19826640hg19UCSC Ensembl
Innerchr22:17453612..18206640hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38753019
hg19753029
hg18753029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588216
Supporting Variants
Samples
Known GenesC22orf39, CDC45, CLDN5, CLTCL1, DGCR14, DGCR2, GNB1L, GP1BB, GSC2, HIRA, LINC00895, LOC100652736, MRPL40, SEPT5, SEPT5-GP1BB, SLC25A1, TBX1, TSSK2, UFD1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv951700
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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