A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546349



Internal ID15987072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583339..59584019hg38UCSC Ensembl
Innerchr1:60049011..60049691hg19UCSC Ensembl
Innerchr1:59821599..59822279hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv715457, nssv715455, nssv715452, nssv715454, nssv715453, nssv715456
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546349
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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