A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547690



Internal ID15988413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143692128hg38UCSC Ensembl
Innerchr1:149029447..149186779hg19UCSC Ensembl
Innerchr1:147296071..147453403hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38153510
hg19157333
hg18157333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv539n54
Supporting Variantsnssv723098, nssv723099
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547690
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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