A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1



Internal ID15036888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2525151..2553994hg38UCSC Ensembl
Outerchr1:2456590..2485433hg19UCSC Ensembl
Outerchr1:2446450..2478865hg18UCSC Ensembl
Outerchr1:2488752..2521167hg17UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3828844
hg1928844
hg1832416
hg1732416
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1
SamplesNA15510
Known GenesHES5, LOC115110, PANK4
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)nsv1
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