A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548195



Internal ID16335604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174499864..174550138hg38UCSC Ensembl
Innerchr1:174469002..174519276hg19UCSC Ensembl
Innerchr1:172735625..172785899hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3850275
hg1950275
hg1850275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv728817
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548195
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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