A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508789



Internal ID15824816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:107803448..107894491hg38UCSC Ensembl
OuterchrX:107046678..107137721hg19UCSC Ensembl
OuterchrX:106933334..107024377hg18UCSC Ensembl
OuterchrX:106852823..106943866hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg386632
hg196632
hg186632
hg176632
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623598
SamplesNA18994
Known GenesMID2
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)nsv508789
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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