A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6578359



Internal ID20951430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56201986..66057683hg38UCSC Ensembl
chr12:56595770..66451463hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg389855698
hg199855694
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1546n223
Supporting Variantsnssv18229330
Samples
Known GenesAGAP2, AGAP2-AS1, ANKRD52, APOF, ARHGAP9, ARHGEF25, ATP5B, AVIL, AVPR1A, B4GALNT1, BAZ2A, C12orf56, C12orf61, C12orf66, CDK4, CNPY2, COQ10A, CS, CTDSP2, CYP27B1, DCTN2, DDIT3, DPY19L2, DTX3, FAM19A2, FLJ41278, GLI1, GLS2, GNS, GPR182, HMGA2, HSD17B6, IL23A, INHBC, INHBE, KIF5A, LEMD3, LOC100506844, LRIG3, LRP1, MARCH9, MARS, MBD6, METTL1, METTL21B, MIP, MIR1228, MIR26A2, MIR548C, MIR548Z, MIR6074, MIR6125, MIR6758, MIR6759, MIRLET7I, MON2, MSRB3, MYO1A, NAB2, NABP2, NACA, NDUFA4L2, NXPH4, OS9, PAN2, PIP4K2C, PPM1H, PRIM1, PTGES3, R3HDM2, RASSF3, RBMS2, RDH16, RNF41, RPSAP52, SDR9C7, SHMT2, SLC16A7, SLC26A10, SLC39A5, SNORD59A, SNORD59B, SPRYD4, SRGAP1, STAC3, STAT2, STAT6, TAC3, TBC1D30, TBK1, TIMELESS, TMEM194A, TMEM5, TSFM, TSPAN31, USP15, WIF1, XPOT, XRCC6BP1, ZBTB39
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6578359
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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