A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055629



Internal ID18798160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17575540..17611340hg38UCSC Ensembl
Innerchr22:18055605..18094106hg19UCSC Ensembl
Innerchr22:16435605..16474106hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3835801
hg1938502
hg1838502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4464n100
Supporting Variantsnssv3589332, nssv3589331
Samples
Known GenesATP6V1E1, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055629
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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