A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24078



Internal ID15490698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60119519..60120365hg38UCSC Ensembl
Outerchr17:60117802..60121018hg38UCSC Ensembl
Innerchr17:58196880..58197726hg19UCSC Ensembl
Outerchr17:58195163..58198379hg19UCSC Ensembl
Innerchr17:55551662..55552508hg18UCSC Ensembl
Outerchr17:55549945..55553161hg18UCSC Ensembl
Innerchr17:55551662..55552508hg17UCSC Ensembl
Outerchr17:55549945..55553161hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg383217
hg193217
hg183217
hg173217
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9579
Supporting Variants
SamplesNA18853
Known Genes
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)nssv24078
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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