A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999092



Internal ID18844410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149937183..154159803hg38UCSC Ensembl
Outerchr7:149634272..153856888hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg384222621
hg194222617
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151906
Supporting Variants
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999092
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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