A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv719750



Internal ID15667020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103563013..103760728hg38UCSC Ensembl
Innerchr1:104105635..104303350hg19UCSC Ensembl
Innerchr1:103907158..104104873hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38197716
hg19197716
hg18197716
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546966
Supporting Variants
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv719750
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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