A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv256



Internal ID15383739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:49508518..49569468hg38UCSC Ensembl
Outerchr4:49510535..49571485hg19UCSC Ensembl
Outerchr4:49205292..49266242hg18UCSC Ensembl
Outerchr4:49351463..49412413hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3860951
hg1960951
hg1860951
hg1760951
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv256
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)nsv256
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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