A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500327



Internal ID18741282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103621153..103766545hg38UCSC Ensembl
Innerchr1:104163775..104309167hg19UCSC Ensembl
Innerchr1:103965298..104110690hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38145393
hg19145393
hg18145393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999535
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500327
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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