A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003259



Internal ID18745790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:99769298..99978171hg38UCSC Ensembl
Innerchr1:100234854..100443727hg19UCSC Ensembl
Innerchr1:100007442..100216315hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38208874
hg19208874
hg18208874
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3699604
Samples
Known GenesAGL, SLC35A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003259
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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