A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560112



Internal ID16000835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108558295..108563430hg38UCSC Ensembl
Innerchr12:108952071..108957206hg19UCSC Ensembl
Innerchr12:107476201..107481335hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385136
hg195136
hg185135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801931
Samples
Known GenesISCU, SART3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560112
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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