A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546257



Internal ID16333666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53293400..53376427hg38UCSC Ensembl
Innerchr1:53759072..53842099hg19UCSC Ensembl
Innerchr1:53531660..53614687hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3883028
hg1983028
hg1883028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173847
SamplesNINDS_15
Known GenesLRP8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546257
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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