A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067934



Internal ID18974193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:150003336..154093673hg38UCSC Ensembl
chr7:149700425..153790758hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384090338
hg194090334
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764382
SamplesKWP1
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
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1067934
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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