A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009329



Internal ID18751860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103679270hg38UCSC Ensembl
Innerchr1:104109226..104221892hg19UCSC Ensembl
Innerchr1:103910749..104023415hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38112667
hg19112667
hg18112667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217n100
Supporting Variantsnssv3471544, nssv3467267, nssv3479692, nssv3475709, nssv3463078, nssv3466494
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)nsv1009329
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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