A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3479739



Internal ID18722121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103682934hg38UCSC Ensembl
Innerchr1:104155790..104225556hg19UCSC Ensembl
Innerchr1:103957313..104027079hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3869767
hg1969767
hg1869767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009203
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)nssv3479739
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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