A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439168



Internal ID22497038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:150023235..154074108hg38UCSC Ensembl
chr7:149720324..153771193hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384050874
hg194050870
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979093
Supporting Variants
Samples
Known GenesABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, DPP6, FABP5P3, FASTK, GALNT11, GALNTL5, GBX1, GIMAP1, GIMAP1-GIMAP5, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, KCNH2, KMT2C, LINC00996, LINC01003, LOC728743, LRRC61, MIR3907, MIR671, NOS3, NUB1, PRKAG2, PRKAG2-AS1, RARRES2, REPIN1, RHEB, RNU6-33P, RNU6-34P, SLC4A2, SMARCD3, TMEM176A, TMEM176B, TMUB1, WDR86, WDR86-AS1, XRCC2, ZBED6CL, ZNF775
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439168
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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