A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv292



Internal ID15383779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:48870534..48931543hg38UCSC Ensembl
Outerchr7:48910130..48971139hg19UCSC Ensembl
Outerchr7:48880676..48941685hg18UCSC Ensembl
Outerchr7:48687391..48748400hg17UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3861010
hg1961010
hg1861010
hg1761010
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv292
SamplesNA15510
Known GenesCDC14C
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)nsv292
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer