A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548193



Internal ID15988916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174045369..174183550hg38UCSC Ensembl
Innerchr1:174014507..174152688hg19UCSC Ensembl
Innerchr1:172281130..172419311hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38138182
hg19138182
hg18138182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173350
SamplesNINDS_156
Known GenesRABGAP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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