A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18247392



Internal ID20814432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111078274..116976218hg38UCSC Ensembl
chr1:111620896..117518840hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg385897945
hg195897945
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6549317
Supporting Variants
Samples
Known GenesADORA3, AKR7A2P1, AMPD1, AP4B1, AP4B1-AS1, ATP1A1, ATP1A1OS, ATP5F1, BCAS2, BCL2L15, C1orf137, C1orf162, CAPZA1, CASQ2, CD2, CD58, CEPT1, CHI3L2, CHIA, CHIAP2, CSDE1, CTTNBP2NL, DCLRE1B, DDX20, DENND2C, DENND2D, DRAM2, FAM19A3, FAM212B, FAM212B-AS1, HIPK1, IGSF3, KCND3, LOC100129269, LOC100996251, LOC100996702, LOC643355, LOC643441, LRIG2, MAB21L3, MAGI3, MIR320B1, MIR4256, MOV10, NGF, NHLH2, NRAS, OLFML3, OVGP1, PGCP1, PHTF1, PIFO, PPM1J, PTGFRN, PTPN22, RAP1A, RHOC, RSBN1, SIKE1, SLC16A1, SLC16A1-AS1, SLC22A15, ST7L, SYCP1, SYT6, TRIM33, TSHB, TSPAN2, VANGL1, WDR77, WNT2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18247392
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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