A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22743



Internal ID15828873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:237940693..237944806hg38UCSC Ensembl
Outerchr1:237940300..237946485hg38UCSC Ensembl
Innerchr1:238103993..238108106hg19UCSC Ensembl
Outerchr1:238103600..238109785hg19UCSC Ensembl
Innerchr1:236170616..236174729hg18UCSC Ensembl
Outerchr1:236170223..236176408hg18UCSC Ensembl
Innerchr1:234430034..234434147hg17UCSC Ensembl
Outerchr1:234429641..234435826hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386186
hg196186
hg186186
hg176186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8957
Supporting Variants
SamplesNA10847
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)nssv22743
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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