A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009989



Internal ID19099208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103635404..103718572hg38UCSC Ensembl
Innerchr1:104178026..104261194hg19UCSC Ensembl
Innerchr1:103979549..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883169
hg1983169
hg1883169
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223n100
Supporting Variantsnssv3497439, nssv3495451, nssv3499551, nssv3500927, nssv3501327, nssv3500607, nssv3489787, nssv3700818, nssv3488300, nssv3700816, nssv3495968, nssv3497294, nssv3492898, nssv3495610, nssv3499117, nssv3488416, nssv3488105, nssv3496872, nssv3500681, nssv3484505, nssv3496794, nssv3486410, nssv3488943, nssv3497422, nssv3497889, nssv3493886, nssv3501087, nssv3500718, nssv3501280, nssv3483059, nssv3485867, nssv3700817, nssv3486487, nssv3491301, nssv3500291, nssv3490979, nssv3495372, nssv3499145, nssv3490061, nssv3484361, nssv3499371, nssv3500885, nssv3496150, nssv3485779, nssv3495853
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)nsv1009989
Frequency
Sample Size11257
Observed Gain18
Observed Loss27
Observed Complex0
Frequencyn/a


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