A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5244



Internal ID15197136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103940531..104062564hg38UCSC Ensembl
OuterchrX:103195105..103317128hg19UCSC Ensembl
OuterchrX:103081761..103203784hg18UCSC Ensembl
OuterchrX:103001250..103123273hg17UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38122034
hg19122024
hg18122024
hg17122024
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7453
Supporting Variants
SamplesNA19129
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256, TMSB15B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5244
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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