A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16756



Internal ID15488523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111207789..111243442hg38UCSC Ensembl
Outerchr1:111126227..111244431hg38UCSC Ensembl
Innerchr1:111750411..111786064hg19UCSC Ensembl
Outerchr1:111668849..111787053hg19UCSC Ensembl
Innerchr1:111551934..111587587hg18UCSC Ensembl
Outerchr1:111470372..111588576hg18UCSC Ensembl
Innerchr1:111462453..111498106hg17UCSC Ensembl
Outerchr1:111380891..111499095hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38118205
hg19118205
hg18118205
hg17118205
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10639
Supporting Variants
SamplesNA18552
Known GenesCEPT1, CHI3L2, DENND2D, DRAM2
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)nssv16756
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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