A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv312n223



Internal ID22803280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112670693..113232556hg38UCSC Ensembl
chr1:113213315..113775178hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38561864
hg19561864
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6327688, nsv6330772
Samples
Known GenesAKR7A2P1, CAPZA1, FAM19A3, LOC100996251, LOC100996702, LOC643441, LRIG2, MOV10, PPM1J, RHOC, SLC16A1, SLC16A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv312n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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