A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4055



Internal ID15192096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120060677..120071216hg38UCSC Ensembl
Outerchr12:120498481..120509020hg19UCSC Ensembl
Outerchr12:118982864..118993403hg18UCSC Ensembl
Outerchr12:118961201..118971740hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3810540
hg1910540
hg1810540
hg1710540
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7237
Supporting Variants
SamplesNA12878
Known GenesCCDC64
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)nssv4055
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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