A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549745



Internal ID15990468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248826485..248903965hg38UCSC Ensembl
Innerchr1:249120684..249198164hg19UCSC Ensembl
Innerchr1:247087307..247164787hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3877481
hg1977481
hg1877481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv740128
Samples
Known GenesZNF672, ZNF692
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549745
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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