A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584747



Internal ID16025470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237645709..237648778hg38UCSC Ensembl
Innerchr2:238554352..238557421hg19UCSC Ensembl
Innerchr2:238219091..238222160hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383070
hg193070
hg183070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7346n54
Supporting Variantsnssv933700
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584747
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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