A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547722



Internal ID15988445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143545263..143687709hg38UCSC Ensembl
Innerchr1:149039930..149182348hg19UCSC Ensembl
Innerchr1:147306554..147448972hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38142447
hg19142419
hg18142419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n54
Supporting Variantsnssv723253
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547722
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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