A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv171



Internal ID15383645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8749927..8825285hg38UCSC Ensembl
Outerchr19:8860564..8935961hg19UCSC Ensembl
Outerchr19:8721564..8796961hg18UCSC Ensembl
Outerchr19:8721564..8796961hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3875359
hg1975398
hg1875398
hg1775398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv171
SamplesNA15510
Known GenesZNF558
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)nsv171
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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