A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008015



Internal ID19097234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678897..103764624hg38UCSC Ensembl
Innerchr1:104221519..104307246hg19UCSC Ensembl
Innerchr1:104023042..104108769hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3885728
hg1985728
hg1885728
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3502242, nssv3701128
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008015
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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