A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953302



Internal ID17302176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62345345..62831248hg38UCSC Ensembl
Outerchr20:60920401..61462600hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38485904
hg19542200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000013
SamplesBILGI_BIOE
Known GenesC20orf166, C20orf166-AS1, CABLES2, COL9A3, GATA5, LAMA5, LINC00659, LOC100127888, MIR1-1, MIR133A2, MRGBP, NTSR1, OGFR, OGFR-AS1, RBBP8NL, RPS21, SLCO4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953302
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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