A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619583



Internal ID15818164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:33392175..33431045hg38UCSC Ensembl
OuterchrX:33410292..33449162hg19UCSC Ensembl
OuterchrX:33320213..33359083hg18UCSC Ensembl
OuterchrX:33169949..33208819hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg385666
hg195666
hg185666
hg175666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508761
Supporting Variants
SamplesNA10860
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)nssv619583
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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