A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv177



Internal ID15383363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:39882937..39899159hg38UCSC Ensembl
Outerchr19:40373577..40389255hg19UCSC Ensembl
Outerchr19:45065417..45081095hg18UCSC Ensembl
Outerchr19:45065417..45081095hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3816223
hg1915679
hg1815679
hg1715679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv177
Supporting Variants
SamplesNA15510
Known GenesFCGBP
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)nssv177
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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