A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129340



Internal ID18934494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149945315..154151634hg38UCSC Ensembl
Outerchr7:149642404..153848719hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384206320
hg194206316
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3695n106
Supporting Variantsnssv3962773
SamplesKWS1
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
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129340
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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