A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055420



Internal ID19144639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24637664..24685359hg38UCSC Ensembl
Innerchr22:25033631..25081326hg19UCSC Ensembl
Innerchr22:23363631..23411326hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3847696
hg1947696
hg1847696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3588051
Samples
Known GenesBCRP3, POM121L10P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055420
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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