A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010112



Internal ID18752643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103615675..103718572hg38UCSC Ensembl
Innerchr1:104158297..104261194hg19UCSC Ensembl
Innerchr1:103959820..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38102898
hg19102898
hg18102898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3468418, nssv3469585
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)nsv1010112
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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