A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498196



Internal ID18739151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103764624hg38UCSC Ensembl
Innerchr1:104178026..104307246hg19UCSC Ensembl
Innerchr1:103979549..104108769hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38129221
hg19129221
hg18129221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014889
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)nssv3498196
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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