A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547716



Internal ID16335125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143837482hg38UCSC Ensembl
Innerchr1:149039120..149332036hg19UCSC Ensembl
Innerchr1:147305744..147598660hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38293030
hg19292917
hg18292917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv545n54
Supporting Variantsnssv723243
Samples
Known GenesLOC101929780, LOC388692, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547716
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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