A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623599



Internal ID15822172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:108769424..108777374hg38UCSC Ensembl
OuterchrX:108012654..108020604hg19UCSC Ensembl
OuterchrX:107899310..107907260hg18UCSC Ensembl
OuterchrX:107818799..107826749hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg389398
hg199398
hg189398
hg179398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508791
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623599
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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