A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4573



Internal ID15192614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21405855..21567396hg38UCSC Ensembl
Outerchr22:21760144..21921685hg19UCSC Ensembl
Outerchr22:20090144..20251685hg18UCSC Ensembl
Outerchr22:20084698..20246239hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38161542
hg19161542
hg18161542
hg17161542
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7350
Supporting Variants
SamplesNA12878
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
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)nssv4573
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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