A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005913



Internal ID18748444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103716810hg38UCSC Ensembl
Innerchr1:104163775..104259432hg19UCSC Ensembl
Innerchr1:103965298..104060955hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3895658
hg1995658
hg1895658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv222n100
Supporting Variantsnssv3487892, nssv3492168, nssv3493467, nssv3700750, nssv3700751, nssv3502168, nssv3486694
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)nsv1005913
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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