A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912980



Internal ID22688196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25481034..28003055hg38UCSC Ensembl
chr12:25633968..28155988hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382522022
hg192522021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365809
Samples
Known GenesARNTL2, ASUN, BHLHE41, C12orf71, FGFR1OP2, IFLTD1, ITPR2, KLHL42, MANSC4, MED21, MIR4302, MRPS35, PPFIBP1, PTHLH, RASSF8, RASSF8-AS1, REP15, SMCO2, SSPN, STK38L, TM7SF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912980
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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