A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546715



Internal ID15987438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200747..85201874hg38UCSC Ensembl
Innerchr1:85666430..85667557hg19UCSC Ensembl
Innerchr1:85439018..85440145hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg381128
hg191128
hg181128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv350n54
Supporting Variantsnssv718466
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546715
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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