A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548654



Internal ID15989377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192279986..192404649hg38UCSC Ensembl
Innerchr1:192249116..192373779hg19UCSC Ensembl
Innerchr1:190515739..190640402hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38124664
hg19124664
hg18124664
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv716n54
Supporting Variantsnssv732821, nssv732823, nssv732822
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548654
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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