A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584746



Internal ID16025469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237645391..237652440hg38UCSC Ensembl
Innerchr2:238554034..238561083hg19UCSC Ensembl
Innerchr2:238218773..238225822hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg387050
hg197050
hg187050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933699
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584746
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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