A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548652



Internal ID15989375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:192279986..192383875hg38UCSC Ensembl
Innerchr1:192249116..192353005hg19UCSC Ensembl
Innerchr1:190515739..190619628hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38103890
hg19103890
hg18103890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv716n54
Supporting Variantsnssv732818, nssv732817
Samples
Known GenesRGS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548652
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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