A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612906



Internal ID16053629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144090784hg38UCSC Ensembl
Innerchr8:144992103..145145687hg19UCSC Ensembl
Innerchr8:145064091..145217675hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38172850
hg19153585
hg18153585
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125746
Samples
Known GenesEXOSC4, GPAA1, GRINA, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612906
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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