A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24444



Internal ID15488967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46916031..47108785hg38UCSC Ensembl
Outerchr18:46684730..47231140hg38UCSC Ensembl
Innerchr18:44495994..44635156hg19UCSC Ensembl
Outerchr18:44264693..44757511hg19UCSC Ensembl
Innerchr18:42749992..42889154hg18UCSC Ensembl
Outerchr18:42518691..43011509hg18UCSC Ensembl
Innerchr18:42749992..42889154hg17UCSC Ensembl
Outerchr18:42518691..43011509hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38546411
hg19492819
hg18492819
hg17492819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9629
Supporting Variants
SamplesNA18552
Known GenesHDHD2, IER3IP1, KATNAL2, PIAS2, SKOR2, ST8SIA5, TCEB3B, TCEB3C, TCEB3CL, TCEB3CL2
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)nssv24444
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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