A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400731



Internal ID22458601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:137097814..139588879hg38UCSC Ensembl
chr3:136816656..139307721hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg382491066
hg192491066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889866
Supporting Variants
Samples
Known GenesA4GNT, ARMC8, BPESC1, C3orf72, CEP70, CLDN18, COPB2, DBR1, DZIP1L, ESYT3, FAIM, FOXL2, MRAS, MRPS22, NME9, NMNAT3, PIK3CB, PISRT1, PRR23A, PRR23B, PRR23C, RBP1, RBP2, SOX14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400731
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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