A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549335



Internal ID15990058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230733804..230797361hg38UCSC Ensembl
Innerchr1:230869550..230933107hg19UCSC Ensembl
Innerchr1:228936173..228999730hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3863558
hg1963558
hg1863558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv737837
Samples
Known GenesCAPN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549335
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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