A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv247



Internal ID15383441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192214236..192231416hg38UCSC Ensembl
Outerchr3:191932025..191949205hg19UCSC Ensembl
Outerchr3:193414719..193431899hg18UCSC Ensembl
Outerchr3:193414727..193431907hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812524
hg1912524
hg1812524
hg1712524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv247
Supporting Variants
SamplesNA15510
Known GenesFGF12
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)nssv247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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