A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv135



Internal ID15383317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218007786..218042199hg38UCSC Ensembl
Outerchr1:218181128..218215541hg19UCSC Ensembl
Outerchr1:216247751..216282164hg18UCSC Ensembl
Outerchr1:214569523..214603936hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3834414
hg1934414
hg1834414
hg1734414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv135
Supporting Variants
SamplesNA15510
Known Genes
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)nssv135
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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