A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584750



Internal ID16025473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237645709..237650664hg38UCSC Ensembl
Innerchr2:238554352..238559307hg19UCSC Ensembl
Innerchr2:238219091..238224046hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384956
hg194956
hg184956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7347n54
Supporting Variantsnssv933704
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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