A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535905



Internal ID15512934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62332390..62812195hg38UCSC Ensembl
Innerchr20:60907446..61443547hg19UCSC Ensembl
Innerchr20:60340841..60913992hg18UCSC Ensembl
Innerchr20:60340841..60913992hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38479806
hg19536102
hg18573152
hg17573152
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459065
Supporting Variants
SamplesNINDS_83
Known GenesC20orf166, C20orf166-AS1, CABLES2, GATA5, LAMA5, LINC00659, LOC100127888, MIR1-1, MIR133A2, MIR4758, MRGBP, NTSR1, OGFR, OGFR-AS1, RBBP8NL, RPS21, SLCO4A1
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)nssv535905
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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