A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055737



Internal ID18798268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19513840..19551004hg38UCSC Ensembl
Innerchr22:19501363..19538527hg19UCSC Ensembl
Innerchr22:17881363..17918527hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3837165
hg1937165
hg1837165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4478n100
Supporting Variantsnssv3587344, nssv3587345
Samples
Known GenesCDC45, CLDN5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055737
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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