A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7392



Internal ID15205711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5942683..6820874hg38UCSC Ensembl
Outerchr7:5982314..6860505hg19UCSC Ensembl
Outerchr7:5948840..6827030hg18UCSC Ensembl
Outerchr7:5755555..6633745hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38878192
hg19878192
hg18878191
hg17878191
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10533, nssv4963
SamplesNA18956, NA19129
Known GenesAIMP2, ANKRD61, C7orf26, CCZ1B, CYTH3, DAGLB, EIF2AK1, FAM220A, GRID2IP, KDELR2, PMS2, PMS2CL, RAC1, RSPH10B, RSPH10B2, USP42, ZDHHC4, ZNF12, ZNF316, ZNF853
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)nsv7392
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer