A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546370



Internal ID16333779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61082059..61083822hg38UCSC Ensembl
Innerchr1:61547731..61549494hg19UCSC Ensembl
Innerchr1:61320319..61322082hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381764
hg191764
hg181764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv296n54
Supporting Variantsnssv715505, nssv715506
Samples
Known GenesNFIA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546370
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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