A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976704



Internal ID22751639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36955252..45585469hg38UCSC Ensembl
chr20:35583655..44214108hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg388630218
hg198630454
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393943
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
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976704
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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