A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001407



Internal ID19090624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103716810hg38UCSC Ensembl
Innerchr1:104178026..104259432hg19UCSC Ensembl
Innerchr1:103979549..104060955hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3881407
hg1981407
hg1881407
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3700815, nssv3495884, nssv3488689, nssv3499380, nssv3700814, nssv3484929
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001407
Frequency
Sample Size11257
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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