A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv242



Internal ID15383724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112155291..112167272hg38UCSC Ensembl
Outerchr3:111874138..111886119hg19UCSC Ensembl
Outerchr3:113356828..113368809hg18UCSC Ensembl
Outerchr3:113356828..113368809hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3810152
hg1910152
hg1810152
hg1710152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv242
SamplesNA15510
Known GenesSLC9C1
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)nsv242
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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