A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv197



Internal ID15036699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23923275..23993848hg38UCSC Ensembl
Outerchr22:24265462..24336042hg19UCSC Ensembl
Outerchr22:22595462..22666042hg18UCSC Ensembl
Outerchr22:22590016..22660596hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3870574
hg1970581
hg1870581
hg1770581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv197
Supporting Variants
SamplesNA15510
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv197
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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