A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6596116



Internal ID20969187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36955253..45585469hg38UCSC Ensembl
chr20:35583656..44214108hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg388630217
hg198630453
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18254333
Samples
Known GenesACTR5, ADA, ADIG, ARHGAP40, BLCAP, BPI, CHD6, CTNNBL1, DBNDD2, DHX35, EMILIN3, EPPIN, EPPIN-WFDC6, FAM83D, FITM2, GDAP1L1, GHRH, GTSF1L, HNF4A, IFT52, JPH2, KCNK15, KCNS1, KIAA1755, L3MBTL1, LBP, LINC00489, LOC100287792, LOC149684, LOC339568, LOC79015, LPIN3, MAFB, MANBAL, MATN4, MIR3646, MIR6812, MIR6871, MROH8, MYBL2, NNAT, OSER1, OSER1-AS1, PABPC1L, PI3, PIGT, PKIG, PLCG1, PPP1R16B, PTPRT, R3HDML, RALGAPB, RBL1, RBPJL, RIMS4, RPN2, RPRD1B, SDC4, SEMG1, SEMG2, SERINC3, SGK2, SLC32A1, SLPI, SNHG11, SNHG17, SNORA39, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SPINT3, SRC, SRSF6, STK4, STK4-AS1, SYS1, SYS1-DBNDD2, TGM2, TOMM34, TOP1, TOX2, TP53TG5, TTI1, TTPAL, VSTM2L, WFDC12, WFDC2, WFDC5, WFDC6, WFDC8, WISP2, YWHAB, ZHX3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6596116
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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