A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541662



Internal ID15156801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143845100..144097007hg38UCSC Ensembl
Innerchr8:144927272..145151910hg19UCSC Ensembl
Innerchr8:144999260..145223898hg18UCSC Ensembl
Innerchr8:144999260..145223898hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38251908
hg19224639
hg18224639
hg17224639
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466010
Supporting Variants
Samples1780862304_A
Known GenesCYC1, EPPK1, EXOSC4, GPAA1, GRINA, MIR661, MIR6846, MIR6847, OPLAH, PARP10, PLEC, SPATC1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541662
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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