A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11046



Internal ID15192976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21469439..21501934hg38UCSC Ensembl
Outerchr22:21823728..21856223hg19UCSC Ensembl
Outerchr22:20153728..20186223hg18UCSC Ensembl
Outerchr22:20148282..20180777hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3832496
hg1932496
hg1832496
hg1732496
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7350
Supporting Variants
SamplesNA15510
Known GenesPI4KAP2, TMEM191C
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)nssv11046
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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