A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546364



Internal ID15987087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59640597..59641195hg38UCSC Ensembl
Innerchr1:60106269..60106867hg19UCSC Ensembl
Innerchr1:59878857..59879455hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295n54
Supporting Variantsnssv715484, nssv715481, nssv715483, nssv715482
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546364
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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