A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26083



Internal ID15493003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29611581..29615374hg38UCSC Ensembl
Outerchr16:29611039..29616209hg38UCSC Ensembl
Innerchr16:29622902..29626695hg19UCSC Ensembl
Outerchr16:29622360..29627530hg19UCSC Ensembl
Innerchr16:29530403..29534196hg18UCSC Ensembl
Outerchr16:29529861..29535031hg18UCSC Ensembl
Innerchr16:29530403..29534196hg17UCSC Ensembl
Outerchr16:29529861..29535031hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385171
hg195171
hg185171
hg175171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9430
Supporting Variants
SamplesNA18972
Known GenesSLC7A5P1
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)nssv26083
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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