A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv56



Internal ID15383814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:122598443..122627790hg38UCSC Ensembl
Outerchr10:124357959..124387306hg19UCSC Ensembl
Outerchr10:124347949..124377296hg18UCSC Ensembl
Outerchr10:124347949..124377296hg17UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3829348
hg1929348
hg1829348
hg1729348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv56
SamplesNA15510
Known GenesDMBT1
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)nsv56
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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