A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547689



Internal ID15988412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143680106hg38UCSC Ensembl
Innerchr1:149029447..149174746hg19UCSC Ensembl
Innerchr1:147296071..147441370hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38141488
hg19145300
hg18145300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv538n54
Supporting Variantsnssv723097
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547689
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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