A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546369



Internal ID16333778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61082059..61083628hg38UCSC Ensembl
Innerchr1:61547731..61549300hg19UCSC Ensembl
Innerchr1:61320319..61321888hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381570
hg191570
hg181570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv296n54
Supporting Variantsnssv715504
Samples
Known GenesNFIA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546369
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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