A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv246



Internal ID15036754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186856503..186880420hg38UCSC Ensembl
Outerchr3:186574292..186598209hg19UCSC Ensembl
Outerchr3:188056986..188080903hg18UCSC Ensembl
Outerchr3:188056994..188080911hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3823918
hg1923918
hg1823918
hg1723918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv246
Supporting Variants
SamplesNA15510
Known GenesADIPOQ
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)nssv246
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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