A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623594



Internal ID15822167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:79957784..79999396hg38UCSC Ensembl
OuterchrX:79213283..79254895hg19UCSC Ensembl
OuterchrX:79099939..79141551hg18UCSC Ensembl
OuterchrX:79019428..79061040hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3811003
hg1911003
hg1811003
hg1711003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508784
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)nssv623594
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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