A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10316



Internal ID15195796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21392201..21578467hg38UCSC Ensembl
Outerchr22:21746490..21932756hg19UCSC Ensembl
Outerchr22:20076490..20262756hg18UCSC Ensembl
Outerchr22:20071044..20257310hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38186267
hg19186267
hg18186267
hg17186267
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7350
Supporting Variants
SamplesNA18956
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)nssv10316
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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