A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16141



Internal ID15497679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43961505..44040891hg38UCSC Ensembl
Outerchr7:43960417..44045521hg38UCSC Ensembl
Innerchr7:44001104..44080490hg19UCSC Ensembl
Outerchr7:44000016..44085120hg19UCSC Ensembl
Innerchr7:43967629..44047015hg18UCSC Ensembl
Outerchr7:43966541..44051645hg18UCSC Ensembl
Innerchr7:43774344..43853730hg17UCSC Ensembl
Outerchr7:43773256..43858360hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3885105
hg1985105
hg1885105
hg1785105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8082
Supporting Variants
SamplesNA19240
Known GenesDBNL, LINC00957, POLR2J4, RASA4CP, SPDYE1
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)nssv16141
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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