A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619607



Internal ID15818188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149548218..149643091hg38UCSC Ensembl
OuterchrX:148629763..148724760hg19UCSC Ensembl
OuterchrX:148437669..148532565hg18UCSC Ensembl
OuterchrX:148335523..148430419hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384540
hg194540
hg184540
hg174540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508809
Supporting Variants
SamplesNA10860
Known GenesCXorf40A, HSFX1, HSFX2, MAGEA9, MAGEA9B, TMEM185A
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619607
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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