A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612898



Internal ID16053621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143845100..144097007hg38UCSC Ensembl
Innerchr8:144927272..145151910hg19UCSC Ensembl
Innerchr8:144999260..145223898hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38251908
hg19224639
hg18224639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12431n54
Supporting Variantsnssv1156385
Samples1780862304_A
Known GenesCYC1, EPPK1, EXOSC4, 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)nsv612898
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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