A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407106



Internal ID22464976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52932265..54037356hg38UCSC Ensembl
chr19:53435518..54540610hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg381105092
hg191105093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5935137
Supporting Variants
Samples
Known GenesBIRC8, CACNG6, CACNG7, CACNG8, DPRX, ERVV-1, ERVV-2, FAM90A27P, LOC284379, MIR1283-1, MIR1283-2, MIR1323, MIR371A, MIR371B, MIR372, MIR373, MIR498, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR935, MYADM, NLRP12, PRKCG, TPM3P9, VN1R2, VN1R4, ZNF160, ZNF321P, ZNF331, ZNF347, ZNF415, ZNF525, ZNF665, ZNF677, ZNF702P, ZNF761, ZNF765, ZNF813, ZNF816, ZNF816-ZNF321P, ZNF818P, ZNF845
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407106
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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