A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010663



Internal ID18753195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103616713..103718572hg38UCSC Ensembl
Innerchr1:104159335..104261194hg19UCSC Ensembl
Innerchr1:103960858..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38101860
hg19101860
hg18101860
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3498482, nssv3487546, nssv3700742, nssv3494845
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)nsv1010663
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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