A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv720097



Internal ID15667367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103624903..103679831hg38UCSC Ensembl
Innerchr1:104167525..104222453hg19UCSC Ensembl
Innerchr1:103969048..104023976hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3854929
hg1954929
hg1854929
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547131
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv720097
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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