A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548557



Internal ID16335966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190666650..190740014hg38UCSC Ensembl
Innerchr1:190635780..190709144hg19UCSC Ensembl
Innerchr1:188902403..188975767hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3873365
hg1973365
hg1873365
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732572
Samples
Known GenesLOC440704
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548557
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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