A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17523548



Internal ID21847907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30209364..32642526hg38UCSC Ensembl
chr1:30682211..33108127hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg382433163
hg192425917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5983586
Supporting Variants
Samples
Known GenesBAI2, BSDC1, CCDC28B, COL16A1, DCDC2B, EIF3I, FABP3, FAM167B, FAM229A, HCRTR1, HDAC1, IQCC, KHDRBS1, KPNA6, LAPTM5, LCK, LOC149086, LOC284551, MARCKSL1, MATN1, MATN1-AS1, MIR4254, MIR4420, MTMR9LP, NKAIN1, PEF1, PTP4A2, PUM1, SDC3, SERINC2, SNORD103A, SNORD103B, SNORD85, SNRNP40, SPOCD1, TINAGL1, TMEM234, TMEM39B, TSSK3, TXLNA, ZBTB8A, ZBTB8B, ZBTB8OS, ZCCHC17
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17523548
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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