A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7393



Internal ID8519380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:21843127..27810360hg38UCSC Ensembl
Outerchr7:21882745..27849979hg19UCSC Ensembl
Outerchr7:21849270..27816504hg18UCSC Ensembl
Outerchr7:21655985..27623219hg17UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg385967234
hg195967235
hg185967235
hg175967235
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6117
SamplesNA12156
Known GenesC7orf31, C7orf71, CBX3, CCDC126, CDCA7L, CLK2P, CYCS, DFNA5, DNAH11, EVX1, FAM126A, FAM221A, GPNMB, HIBADH, HNRNPA2B1, HOTAIRM1, HOTTIP, HOXA1, HOXA10, HOXA10-HOXA9, HOXA11, HOXA11-AS, HOXA13, HOXA2, HOXA3, HOXA4, HOXA5, HOXA6, HOXA7, HOXA9, HOXA-AS3, HOXA-AS4, IGF2BP3, IL6, KIAA0087, KLHL7, KLHL7-AS1, LOC100506178, LOC441204, MALSU1, MIR148A, MIR196B, MPP6, NFE2L3, NPVF, NPY, NUPL2, OSBPL3, RAPGEF5, RNU6-16P, RPS2P32, SKAP2, SNORD93, SNX10, STEAP1B, STK31, TAX1BP1, TOMM7, TRA2A
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
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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