A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv48



Internal ID15036831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133305961..133330043hg38UCSC Ensembl
Outerchr9:136181442..136196879hg19UCSC Ensembl
Outerchr9:135171263..135186700hg18UCSC Ensembl
Outerchr9:133210996..133226433hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3810567
hg1910567
hg1810567
hg1710567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv48
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)nssv48
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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