A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7393



Internal ID5084718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21882745..27849979hg19UCSC Ensembl
Outerchr7:21849270..27816504hg18UCSC Ensembl
Outerchr7:21655985..27623219hg17UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6117
SamplesNA12156
Known GenesC7orf30, C7orf31, C7orf46, C7orf71, CBX3, CCDC126, CDCA7L, CLK2P, CYCS, DFNA5, DNAH11, EVX1, FAM126A, GPNMB, HIBADH, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA10-HOXA9, HOXA11, HOXA11-AS1, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, IGF2BP3, IL6, KIAA0087, KLHL7, LOC100133311, LOC100506178, LOC441204, MIR148A, MIR196B, MPP6, NFE2L3, NPVF, NPY, NUPL2, OSBPL3, RAPGEF5, RPS2P32, SKAP2, SNORD93, SNX10, STEAP1B, STK31, TAX1BP1, TOMM7, TRA2A
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7393
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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