A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28649



Internal ID15497044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62776035..63599659hg38UCSC Ensembl
Outerchr20:62775470..63601330hg38UCSC Ensembl
Innerchr20:61407387..62231012hg19UCSC Ensembl
Outerchr20:61406822..62232683hg19UCSC Ensembl
Innerchr20:60877832..61701456hg18UCSC Ensembl
Outerchr20:60877267..61703127hg18UCSC Ensembl
Innerchr20:60877832..61701456hg17UCSC Ensembl
Outerchr20:60877267..61703127hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38825861
hg19825862
hg18825861
hg17825861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9825
Supporting Variants
SamplesNA19221
Known GenesARFGAP1, BHLHE23, BIRC7, C20orf195, CHRNA4, COL20A1, COL9A3, DIDO1, DPH3P1, EEF1A2, FLJ16779, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LINC00029, LINC00659, LINC01056, LOC63930, MIR124-3, MIR3196, MIR4326, MRGBP, NKAIN4, OGFR, OGFR-AS1, PPDPF, PTK6, SLC17A9, SRMS, TCFL5, YTHDF1
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv28649
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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