A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508767



Internal ID8791708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47060276..47090189hg38UCSC Ensembl
OuterchrX:46919675..46949588hg19UCSC Ensembl
OuterchrX:46804619..46834532hg18UCSC Ensembl
OuterchrX:46675929..46705842hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg383017
hg193017
hg183017
hg173017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619586
SamplesNA10860
Known GenesJADE3, RGN
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)nsv508767
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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