A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999699



Internal ID18812549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614527..103718572hg38UCSC Ensembl
Innerchr1:104157149..104261194hg19UCSC Ensembl
Innerchr1:103958672..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38104046
hg19104046
hg18104046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3468447, nssv3480677, nssv3473175, nssv3469274
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)nsv999699
Frequency
Sample Size29084
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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