A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv185



Internal ID15383660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14771355..14968909hg38UCSC Ensembl
Outerchr20:14752001..14949555hg19UCSC Ensembl
Outerchr20:14700001..14897555hg18UCSC Ensembl
Outerchr20:14700001..14897555hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38197555
hg19197555
hg18197555
hg17197555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv185
SamplesNA15510
Known GenesMACROD2, MACROD2-AS1
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)nsv185
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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