A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002819



Internal ID18745351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103613168..103697055hg38UCSC Ensembl
Innerchr1:104155790..104239677hg19UCSC Ensembl
Innerchr1:103957313..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883888
hg1983888
hg1883888
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv221n100
Supporting Variantsnssv3477417, nssv3481485, nssv3469816, nssv3475769, nssv3476809, nssv3465982, nssv3466986, nssv3466635, nssv3469565, nssv3699719, nssv3470870, nssv3478264, nssv3463977, nssv3472100, nssv3465500, nssv3466527, nssv3467223, nssv3482224, nssv3482384, nssv3469993, nssv3480091
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)nsv1002819
Frequency
Sample Size29084
Observed Gain10
Observed Loss11
Observed Complex0
Frequencyn/a


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