A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv184



Internal ID15383371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1570746..1619001hg38UCSC Ensembl
Outerchr20:1551392..1599647hg19UCSC Ensembl
Outerchr20:1499392..1547647hg18UCSC Ensembl
Outerchr20:1499392..1547647hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3848256
hg1948256
hg1848256
hg1748256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv184
Supporting Variants
SamplesNA15510
Known GenesSIRPB1
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)nssv184
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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