A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549587



Internal ID16336996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247236957..247275144hg38UCSC Ensembl
Innerchr1:247400259..247438446hg19UCSC Ensembl
Innerchr1:245466882..245505069hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3838188
hg1938188
hg1838188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv739653
Samples
Known GenesVN1R5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549587
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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