A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3478850



Internal ID18721633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614527..103725588hg38UCSC Ensembl
Innerchr1:104157149..104268210hg19UCSC Ensembl
Innerchr1:103958672..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38111062
hg19111062
hg18111062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008708
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)nssv3478850
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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