A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002148



Internal ID19091365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103560154..103589725hg38UCSC Ensembl
Innerchr1:104102776..104132347hg19UCSC Ensembl
Innerchr1:103904299..103933870hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3829572
hg1929572
hg1829572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv214n100
Supporting Variantsnssv3465592, nssv3466469
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002148
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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