A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18236769



Internal ID20803809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57052049..66057683hg38UCSC Ensembl
chr12:57445833..66451463hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg389005635
hg199005631
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6590334
Supporting Variants
Samples
Known GenesAGAP2, AGAP2-AS1, ARHGAP9, ARHGEF25, AVIL, AVPR1A, B4GALNT1, C12orf56, C12orf61, C12orf66, CDK4, CTDSP2, CYP27B1, DCTN2, DDIT3, DPY19L2, DTX3, FAM19A2, FLJ41278, GLI1, GNS, HMGA2, INHBC, INHBE, KIF5A, LEMD3, LOC100506844, LRIG3, LRP1, MARCH9, MARS, MBD6, METTL1, METTL21B, MIR1228, MIR26A2, MIR548C, MIR548Z, MIR6074, MIR6125, MIR6758, MIR6759, MIRLET7I, MON2, MSRB3, NAB2, NDUFA4L2, NXPH4, OS9, PIP4K2C, PPM1H, R3HDM2, RASSF3, RPSAP52, SHMT2, SLC16A7, SLC26A10, SRGAP1, STAC3, STAT6, TBC1D30, TBK1, TMEM194A, TMEM5, TSFM, TSPAN31, USP15, WIF1, XPOT, XRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18236769
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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