A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549204



Internal ID16336613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216961624..217029749hg38UCSC Ensembl
Innerchr1:217134966..217203091hg19UCSC Ensembl
Innerchr1:215201589..215269714hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3868126
hg1968126
hg1868126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv736966
Samples
Known GenesESRRG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549204
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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