A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546326



Internal ID15987049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583022..59583728hg38UCSC Ensembl
Innerchr1:60048694..60049400hg19UCSC Ensembl
Innerchr1:59821282..59821988hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38707
hg19707
hg18707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285n54
Supporting Variantsnssv715291, nssv715287, nssv715289, nssv715288, nssv715292, nssv715286, nssv715290
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546326
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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