A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997803



Internal ID18810653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614527..103765062hg38UCSC Ensembl
Innerchr1:104157149..104307684hg19UCSC Ensembl
Innerchr1:103958672..104109207hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38150536
hg19150536
hg18150536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv226n100
Supporting Variantsnssv3464472
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)nsv997803
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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