A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv235



Internal ID15383428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:55845935..55861081hg38UCSC Ensembl
Outerchr3:55879963..55895109hg19UCSC Ensembl
Outerchr3:55855003..55870149hg18UCSC Ensembl
Outerchr3:55855003..55870149hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg388812
hg198812
hg188812
hg178812
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv235
Supporting Variants
SamplesNA15510
Known GenesERC2, MIR3938
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)nssv235
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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