A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548348



Internal ID15989071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180781345..180786123hg38UCSC Ensembl
Innerchr1:180750481..180755259hg19UCSC Ensembl
Innerchr1:179017104..179021882hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384779
hg194779
hg184779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657n54
Supporting Variantsnssv729695
Samples
Known GenesXPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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