A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000983



Internal ID18743514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103718572hg38UCSC Ensembl
Innerchr1:104109226..104261194hg19UCSC Ensembl
Innerchr1:103910749..104062717hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38151969
hg19151969
hg18151969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218n100
Supporting Variantsnssv3473744, nssv3477546, nssv3466332, nssv3699678, nssv3471307, nssv3476623, nssv3463476, nssv3471698, nssv3481975, nssv3463218, nssv3481956, nssv3464218, nssv3480446, nssv3471313, nssv3699677, nssv3471228, nssv3470734, nssv3481046, nssv3474842, nssv3476478, nssv3463671
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000983
Frequency
Sample Size29084
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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