A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv248



Internal ID15383442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193148605..193174225hg38UCSC Ensembl
Outerchr3:192866394..192892014hg19UCSC Ensembl
Outerchr3:194349088..194374708hg18UCSC Ensembl
Outerchr3:194349096..194374716hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3825621
hg1925621
hg1825621
hg1725621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv248
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)nssv248
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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