A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28319



Internal ID15496833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46347284..46494583hg38UCSC Ensembl
Outerchr17:46346335..46496985hg38UCSC Ensembl
Innerchr17:44424650..44571949hg19UCSC Ensembl
Outerchr17:44423701..44574351hg19UCSC Ensembl
Innerchr17:41780406..41927265hg18UCSC Ensembl
Outerchr17:41779457..41929667hg18UCSC Ensembl
Innerchr17:41780406..41927265hg17UCSC Ensembl
Outerchr17:41779457..41929667hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38150651
hg19150651
hg18150211
hg17150211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA19221
Known GenesARL17A, ARL17B, NSFP1
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)nssv28319
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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