A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011245



Internal ID19100462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103714462hg38UCSC Ensembl
Innerchr1:104155790..104257084hg19UCSC Ensembl
Innerchr1:103957313..104058607hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38101295
hg19101295
hg18101295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3471436, nssv3470359
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)nsv1011245
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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