A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv216



Internal ID15383407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147263587..147285365hg38UCSC Ensembl
OuterchrX:146345105..146366883hg19UCSC Ensembl
OuterchrX:146152797..146174575hg18UCSC Ensembl
OuterchrX:146050651..146072429hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg388960
hg198960
hg188960
hg178960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv216
Supporting Variants
SamplesNA15510
Known GenesMIR510, MIR514A1, MIR514A2, MIR514A3
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)nssv216
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