A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584749



Internal ID16025472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237645709..237650136hg38UCSC Ensembl
Innerchr2:238554352..238558779hg19UCSC Ensembl
Innerchr2:238219091..238223518hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384428
hg194428
hg184428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7347n54
Supporting Variantsnssv933702, nssv933703
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584749
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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