A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv44



Internal ID15036827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:104867939..104885846hg38UCSC Ensembl
Outerchr9:107630220..107648127hg19UCSC Ensembl
Outerchr9:106670041..106687948hg18UCSC Ensembl
Outerchr9:104709775..104727682hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3810789
hg1910789
hg1810789
hg1710789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv44
Supporting Variants
SamplesNA15510
Known GenesABCA1
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)nssv44
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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