A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002902



Internal ID18745434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103503662..103725588hg38UCSC Ensembl
Innerchr1:104046284..104268210hg19UCSC Ensembl
Innerchr1:103818872..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38221927
hg19221927
hg18250862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213n100
Supporting Variantsnssv3468286
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002902
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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