A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv172



Internal ID15383646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34239411..34252226hg38UCSC Ensembl
Outerchr19:34730316..34743131hg19UCSC Ensembl
Outerchr19:39422156..39434971hg18UCSC Ensembl
Outerchr19:39422156..39434971hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3810108
hg1910108
hg1810108
hg1710108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv172
SamplesNA15510
Known Genes
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)nsv172
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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