A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7470



Internal ID15552483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155335399..155534547hg38UCSC Ensembl
OuterchrX:154564708..154764208hg19UCSC Ensembl
OuterchrX:154217902..154417402hg18UCSC Ensembl
OuterchrX:154128412..154327912hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38199149
hg19199501
hg18199501
hg17199501
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1884, nssv3834, nssv9930, nssv10749
SamplesNA18507, NA12878, NA18956, NA18555
Known GenesF8A1, F8A2, F8A3, H2AFB1, H2AFB2, H2AFB3, MIR1184-1, MIR1184-2, MIR1184-3, TMLHE, TMLHE-AS1
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)nsv7470
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