A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547695



Internal ID15988418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143538619..143735154hg38UCSC Ensembl
Innerchr1:149029447..149229805hg19UCSC Ensembl
Innerchr1:147296071..147496429hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38196536
hg19200359
hg18200359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv540n54
Supporting Variantsnssv723107, nssv723108, nssv723109, nssv723110, nssv723106
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547695
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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