A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720050



Internal ID15667320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613322..103648674hg38UCSC Ensembl
Innerchr1:104155944..104191296hg19UCSC Ensembl
Innerchr1:103957467..103992819hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3835353
hg1935353
hg1835353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547096
Supporting Variants
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv720050
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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