A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999121



Internal ID19158657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103678897..103718572hg38UCSC Ensembl
Innerchr1:104221519..104261194hg19UCSC Ensembl
Innerchr1:104023042..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3839676
hg1939676
hg1839676
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv227n100
Supporting Variantsnssv3701091, nssv3491430, nssv3490721, nssv3483135, nssv3498116, nssv3485810, nssv3496522, nssv3493075, nssv3492072, nssv3494506, nssv3489663, nssv3701090, nssv3489892, nssv3490143, nssv3501813, nssv3491594, nssv3485555, nssv3493324, nssv3485928, nssv3495193, nssv3488062, nssv3499437, nssv3495351, nssv3489476, nssv3485097, nssv3483583, nssv3498680, nssv3494225, nssv3492548, nssv3485139, nssv3493825, nssv3489631, nssv3484584, nssv3483619, nssv3501922, nssv3488680, nssv3485595, nssv3497384, nssv3494240, nssv3497954, nssv3485446, nssv3488857, nssv3491904, nssv3501758, nssv3492198, nssv3491811, nssv3497072, nssv3497683, nssv3488636, nssv3502253, nssv3499552
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)nsv999121
Frequency
Sample Size11257
Observed Gain31
Observed Loss20
Observed Complex0
Frequencyn/a


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