A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv47



Internal ID15037127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:123987291..124020726hg38UCSC Ensembl
Outerchr9:126749570..126783005hg19UCSC Ensembl
Outerchr9:125789391..125822826hg18UCSC Ensembl
Outerchr9:123829124..123862559hg17UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3833436
hg1933436
hg1833436
hg1733436
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv47
SamplesNA15510
Known GenesLHX2
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)nsv47
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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