A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv223n100



Internal ID22786310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613168..103725588hg38UCSC Ensembl
chr1:104155790..104268210hg19UCSC Ensembl
chr1:103957313..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38112421
hg19112421
hg18112421
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014096, nsv1010663, nsv1011106, nsv1009155, nsv1008367, nsv1004448, nsv1009989, nsv1008708, nsv1006312, nsv1013722, nsv997523, nsv1001407
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)dgv223n100
Frequency
Sample Size11257
Observed Gain359
Observed Loss445
Observed Complex0
Frequencyn/a


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