A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv180



Internal ID15383655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47949706..47979206hg38UCSC Ensembl
Outerchr19:48452963..48482463hg19UCSC Ensembl
Outerchr19:53144775..53174275hg18UCSC Ensembl
Outerchr19:53144775..53174275hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg388910
hg198910
hg188910
hg178910
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv180
SamplesNA15510
Known GenesBSPH1, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C5
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)nsv180
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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