A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548194



Internal ID15988917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:174164113..174500767hg38UCSC Ensembl
Innerchr1:174133251..174469905hg19UCSC Ensembl
Innerchr1:172399874..172736528hg18UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38336655
hg19336655
hg18336655
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173351
SamplesHGDP01035
Known GenesGPR52, RABGAP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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