A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009209



Internal ID18751740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103714462hg38UCSC Ensembl
Innerchr1:104109226..104257084hg19UCSC Ensembl
Innerchr1:103910749..104058607hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38147859
hg19147859
hg18147859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218n100
Supporting Variantsnssv3482679
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)nsv1009209
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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