A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv254



Internal ID15383449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72269308..72357511hg38UCSC Ensembl
Outerchr1:72734991..72823194hg19UCSC Ensembl
Outerchr1:72507579..72595782hg18UCSC Ensembl
Outerchr1:72447012..72535215hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3888204
hg1988204
hg1888204
hg1788204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv254
Supporting Variants
SamplesNA15510
Known GenesNEGR1
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)nssv254
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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