A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577958



Internal ID16018681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79925520..80130825hg38UCSC Ensembl
Innerchr18:77685520..77888708hg19UCSC Ensembl
Innerchr18:75786508..75989699hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38205306
hg19203189
hg18203192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv890271
Samples
Known GenesADNP2, HSBP1L1, PQLC1, RBFA, RBFADN, TXNL4A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577958
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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