A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220749



Internal ID20787789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57775018..66057683hg38UCSC Ensembl
chr12:58168801..66451463hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg388282666
hg198282663
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6589195
Supporting Variants
Samples
Known GenesAVIL, AVPR1A, C12orf56, C12orf61, C12orf66, CTDSP2, DPY19L2, FAM19A2, FLJ41278, GNS, HMGA2, LEMD3, LOC100506844, LRIG3, METTL21B, MIR26A2, MIR548C, MIR548Z, MIR6074, MIR6125, MIRLET7I, MON2, MSRB3, PPM1H, RASSF3, RPSAP52, SLC16A7, SRGAP1, TBC1D30, TBK1, TMEM5, TSFM, USP15, WIF1, XPOT, XRCC6BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220749
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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