A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012949



Internal ID18755480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103556018..103766545hg38UCSC Ensembl
Innerchr1:104098640..104309167hg19UCSC Ensembl
Innerchr1:103900163..104110690hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38210528
hg19210528
hg18210528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3465161, nssv3470873, nssv3479171
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012949
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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