A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3472440



Internal ID18718289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103556018..103679270hg38UCSC Ensembl
Innerchr1:104098640..104221892hg19UCSC Ensembl
Innerchr1:103900163..104023415hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38123253
hg19123253
hg18123253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000768
Supporting Variants
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)nssv3472440
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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