A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548197



Internal ID16335606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174762458..174771879hg38UCSC Ensembl
Innerchr1:174731596..174741017hg19UCSC Ensembl
Innerchr1:172998219..173007640hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg389422
hg199422
hg189422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv728819
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548197
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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