A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545230



Internal ID15985953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6081265..6133958hg38UCSC Ensembl
Innerchr1:6141325..6194018hg19UCSC Ensembl
Innerchr1:6063912..6116605hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3852694
hg1952694
hg1852694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv75n54
Supporting Variantsnssv709141
Samples
Known GenesCHD5, KCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545230
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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