A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999170



Internal ID18812020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103697055hg38UCSC Ensembl
Innerchr1:104109226..104239677hg19UCSC Ensembl
Innerchr1:103910749..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38130452
hg19130452
hg18130452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217n100
Supporting Variantsnssv3470436, nssv3475753, nssv3468867, nssv3477878, nssv3475930, nssv3480964, nssv3469992, nssv3464786
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)nsv999170
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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