A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548196



Internal ID16335605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174555997..174589983hg38UCSC Ensembl
Innerchr1:174525135..174559121hg19UCSC Ensembl
Innerchr1:172791758..172825744hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3833987
hg1933987
hg1833987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv728818
Samples
Known GenesRABGAP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548196
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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