A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009613



Internal ID19098831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103570253..103621153hg38UCSC Ensembl
Innerchr1:104112875..104163775hg19UCSC Ensembl
Innerchr1:103914398..103965298hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3850901
hg1950901
hg1850901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv215n100
Supporting Variantsnssv3481225, nssv3699708
Samples
Known GenesACTG1P4, 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)nsv1009613
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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