A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5231



Internal ID15543908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72972887..73073289hg38UCSC Ensembl
OuterchrX:72192722..72293128hg19UCSC Ensembl
OuterchrX:72109447..72209853hg18UCSC Ensembl
OuterchrX:71975743..72076149hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38100403
hg19100407
hg18100407
hg17100407
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7451
Supporting Variants
SamplesNA19129
Known GenesPABPC1L2B
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)nssv5231
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