A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998891



Internal ID18811741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99479588..99843250hg38UCSC Ensembl
Innerchr1:99945144..100308806hg19UCSC Ensembl
Innerchr1:99717732..100081394hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38363663
hg19363663
hg18363663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479548
Samples
Known GenesFRRS1, MIR548AA1, MIR548D1, PALMD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998891
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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