A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013997



Internal ID18756529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103682934hg38UCSC Ensembl
Innerchr1:104109226..104225556hg19UCSC Ensembl
Innerchr1:103910749..104027079hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38116331
hg19116331
hg18116331
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217n100
Supporting Variantsnssv3465047, nssv3469085, nssv3474464, nssv3699674, nssv3465928, nssv3699676, nssv3699675, nssv3471513, nssv3471493, nssv3475698, nssv3468985, nssv3481844, nssv3467649, nssv3473936, nssv3479663, nssv3480271, nssv3476647, nssv3474730
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)nsv1013997
Frequency
Sample Size29084
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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