A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16761



Internal ID15491924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103680625..103687569hg38UCSC Ensembl
Outerchr1:103680121..103687590hg38UCSC Ensembl
Innerchr1:104223247..104230191hg19UCSC Ensembl
Outerchr1:104222743..104230212hg19UCSC Ensembl
Innerchr1:104024770..104031714hg18UCSC Ensembl
Outerchr1:104024266..104031735hg18UCSC Ensembl
Innerchr1:103935268..103942212hg17UCSC Ensembl
Outerchr1:103934764..103942233hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg387470
hg197470
hg187470
hg177470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10428
Supporting Variants
SamplesNA18860
Known GenesAMY1A, AMY1B, AMY1C
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)nssv16761
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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