A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547740



Internal ID15988463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143550435..143665797hg38UCSC Ensembl
Innerchr1:149045105..149160437hg19UCSC Ensembl
Innerchr1:147311729..147427061hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38115363
hg19115333
hg18115333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n54
Supporting Variantsnssv723281, nssv723280
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547740
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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