A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3487219



Internal ID19074860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678897..103717605hg38UCSC Ensembl
Innerchr1:104221519..104260227hg19UCSC Ensembl
Innerchr1:104023042..104061750hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3838709
hg1938709
hg1838709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009471
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3487219
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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