A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612690



Internal ID16400099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142193573..142241748hg38UCSC Ensembl
Innerchr8:143274934..143323109hg19UCSC Ensembl
Innerchr8:143272841..143321016hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3848176
hg1948176
hg1848176
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124911
Samples
Known GenesLINC00051, TSNARE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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