A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998864



Internal ID18811714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48788739..49002861hg38UCSC Ensembl
Innerchr2:49015878..49230000hg19UCSC Ensembl
Innerchr2:48869382..49083504hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38214123
hg19214123
hg18214123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581640
Samples
Known GenesFSHR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998864
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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