A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623593



Internal ID15822166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:77170581..77200799hg38UCSC Ensembl
OuterchrX:76391046..76421262hg19UCSC Ensembl
OuterchrX:76307437..76337654hg18UCSC Ensembl
OuterchrX:76173733..76203950hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383802
hg193802
hg183802
hg173802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508783
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)nssv623593
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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