A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998885



Internal ID18811735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39896764..39955711hg38UCSC Ensembl
Innerchr2:40123904..40182851hg19UCSC Ensembl
Innerchr2:39977408..40036355hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3858948
hg1958948
hg1858948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581478
Samples
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998885
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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