A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548396



Internal ID15989119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:185068972..185182246hg38UCSC Ensembl
Innerchr1:185038104..185151378hg19UCSC Ensembl
Innerchr1:183304727..183418001hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38113275
hg19113275
hg18113275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729843
Samples
Known GenesRNF2, SWT1, TRMT1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548396
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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