A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997428



Internal ID18810278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103566604..103714945hg38UCSC Ensembl
Innerchr1:104109226..104257567hg19UCSC Ensembl
Innerchr1:103910749..104059090hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38148342
hg19148342
hg18148342
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218n100
Supporting Variantsnssv3475775, nssv3476992, nssv3472773, nssv3472992, nssv3470537, nssv3468582, nssv3462829
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)nsv997428
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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