A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008039



Internal ID18750570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103716810hg38UCSC Ensembl
Innerchr1:104155790..104259432hg19UCSC Ensembl
Innerchr1:103957313..104060955hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38103643
hg19103643
hg18103643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv224n100
Supporting Variantsnssv3700670, nssv3478961
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)nsv1008039
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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