A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19092



Internal ID15833018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119845655..119863370hg38UCSC Ensembl
Outerchr1:119844362..119867384hg38UCSC Ensembl
Innerchr1:120388278..120405993hg19UCSC Ensembl
Outerchr1:120386985..120410007hg19UCSC Ensembl
Innerchr1:120189801..120207516hg18UCSC Ensembl
Outerchr1:120188508..120211530hg18UCSC Ensembl
Innerchr1:120100320..120118035hg17UCSC Ensembl
Outerchr1:120099027..120122049hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3823023
hg1923023
hg1823023
hg1723023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10672
Supporting Variants
SamplesNA18502
Known GenesNBPF7
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)nssv19092
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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