A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548527



Internal ID16335936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189661593..189754360hg38UCSC Ensembl
Innerchr1:189630723..189723490hg19UCSC Ensembl
Innerchr1:187897346..187990113hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3892768
hg1992768
hg1892768
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv690n54
Supporting Variantsnssv732550
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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