A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15436



Internal ID15488552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103599934..103679545hg38UCSC Ensembl
Outerchr1:103599321..103680121hg38UCSC Ensembl
Innerchr1:104142556..104222167hg19UCSC Ensembl
Outerchr1:104141943..104222743hg19UCSC Ensembl
Innerchr1:103944079..104023690hg18UCSC Ensembl
Outerchr1:103943466..104024266hg18UCSC Ensembl
Innerchr1:103854577..103934188hg17UCSC Ensembl
Outerchr1:103853964..103934764hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3880801
hg1980801
hg1880801
hg1780801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18552
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)nssv15436
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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