A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7980



Internal ID15845892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120953312..120954655hg38UCSC Ensembl
Outerchr1:144299320..144300663hg19UCSC Ensembl
Outerchr1:143010677..143012020hg18UCSC Ensembl
Outerchr1:141876675..141878018hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381344
hg191344
hg181344
hg171344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19761, nssv18446, nssv23396
SamplesNA18860, NA19007, NA19221
Known GenesLINC00623, LOC100288142, LOC728875
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)nsv7980
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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