A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv195



Internal ID15383671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:22809277..22909464hg38UCSC Ensembl
Outerchr22:23151774..23251634hg19UCSC Ensembl
Outerchr22:21481774..21581634hg18UCSC Ensembl
Outerchr22:21476328..21576188hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38100188
hg1999861
hg1899861
hg1799861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv195
SamplesNA15510
Known GenesIGLL5, MIR650
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)nsv195
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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