A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623589



Internal ID15822162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:55649108..55668011hg38UCSC Ensembl
OuterchrX:55675541..55694444hg19UCSC Ensembl
OuterchrX:55692266..55711169hg18UCSC Ensembl
OuterchrX:55558562..55577465hg17UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg383777
hg193777
hg183777
hg173777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508776
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)nssv623589
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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