A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508816



Internal ID8791757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:154492171..154591783hg38UCSC Ensembl
OuterchrX:153720509..153820046hg19UCSC Ensembl
OuterchrX:153373703..153473240hg18UCSC Ensembl
OuterchrX:153284213..153383750hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg387597
hg197597
hg187597
hg177597
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623617
SamplesNA18994
Known GenesCTAG1A, CTAG1B, FAM223A, FAM223B, FAM3A, G6PD, IKBKG
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)nsv508816
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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