A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508760



Internal ID15824787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:30753338..30781197hg38UCSC Ensembl
OuterchrX:30771455..30799314hg19UCSC Ensembl
OuterchrX:30681376..30709235hg18UCSC Ensembl
OuterchrX:30531112..30558971hg17UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg383305
hg193305
hg183305
hg173305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619582
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)nsv508760
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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