A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1980



Internal ID15194577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9331379..9440275hg38UCSC Ensembl
Outerchr12:9483975..9592871hg19UCSC Ensembl
Outerchr12:9375242..9484138hg18UCSC Ensembl
Outerchr12:9375242..9484138hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38108897
hg19108897
hg18108897
hg17108897
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7228
Supporting Variants
SamplesNA18555
Known GenesDDX12P
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)nssv1980
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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