A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549194



Internal ID15989917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215882511..215899256hg38UCSC Ensembl
Innerchr1:216055853..216072598hg19UCSC Ensembl
Innerchr1:214122476..214139221hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3816746
hg1916746
hg1816746
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736958
Samples
Known GenesUSH2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549194
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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