A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7000



Internal ID15190178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:30496795..30859134hg38UCSC Ensembl
Outerchr3:30538287..30900626hg19UCSC Ensembl
Outerchr3:30513291..30875630hg18UCSC Ensembl
Outerchr3:30513291..30875630hg17UCSC Ensembl
Cytoband3p23
Allele length
AssemblyAllele length
hg38362340
hg19362340
hg18362340
hg17362340
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7352
Supporting Variants
SamplesNA12156
Known GenesGADL1, TGFBR2
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)nssv7000
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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