A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993400



Internal ID18897903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:150151029..153816300hg38UCSC Ensembl
Outerchr7:149848118..153513385hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383665272
hg193665268
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141893
Supporting Variants
SamplesKWS2
Known GenesABCB8, ABCF2, ACTR3B, ACTR3C, AGAP3, AOC1, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, 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)nssv3993400
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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