A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196555



Internal ID20763595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120442140..121624181hg38UCSC Ensembl
chr12:120879943..122062086hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381182042
hg191182144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476788
Supporting Variants
Samples
Known GenesACADS, ANAPC5, C12orf43, CABP1, CAMKK2, COQ5, DYNLL1, DYNLL1-AS1, GATC, HNF1A, HNF1A-AS1, KDM2B, MIR4700, MIR7107, MLEC, OASL, P2RX4, P2RX7, POP5, RNF10, RNF34, SPPL3, SRSF9, TRIAP1, UNC119B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196555
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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