A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15760



Internal ID15485064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103610530..103618378hg38UCSC Ensembl
Outerchr1:103610285..103618944hg38UCSC Ensembl
Innerchr1:104153152..104161000hg19UCSC Ensembl
Outerchr1:104152907..104161566hg19UCSC Ensembl
Innerchr1:103954675..103962523hg18UCSC Ensembl
Outerchr1:103954430..103963089hg18UCSC Ensembl
Innerchr1:103865173..103873021hg17UCSC Ensembl
Outerchr1:103864928..103873587hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg388660
hg198660
hg188660
hg178660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA12802
Known GenesAMY2A
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)nssv15760
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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