A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997338



Internal ID18810188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103614527..103716810hg38UCSC Ensembl
Innerchr1:104157149..104259432hg19UCSC Ensembl
Innerchr1:103958672..104060955hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38102284
hg19102284
hg18102284
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3700710, nssv3700709, nssv3468541
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)nsv997338
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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