A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3474354



Internal ID18719250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103589725..103725588hg38UCSC Ensembl
Innerchr1:104132347..104268210hg19UCSC Ensembl
Innerchr1:103933870..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38135864
hg19135864
hg18135864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004535
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3474354
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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