A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16431



Internal ID15838368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99977112..99977981hg38UCSC Ensembl
Outerchr1:99976313..99978671hg38UCSC Ensembl
Innerchr1:100442668..100443537hg19UCSC Ensembl
Outerchr1:100441869..100444227hg19UCSC Ensembl
Innerchr1:100215256..100216125hg18UCSC Ensembl
Outerchr1:100214457..100216815hg18UCSC Ensembl
Innerchr1:100154689..100155558hg17UCSC Ensembl
Outerchr1:100153890..100156248hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg382359
hg192359
hg182359
hg172359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10406
Supporting Variants
SamplesNA18860
Known GenesSLC35A3
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)nssv16431
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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