A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508792



Internal ID15824819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112293998..112334820hg38UCSC Ensembl
OuterchrX:111537226..111578048hg19UCSC Ensembl
OuterchrX:111423882..111464704hg18UCSC Ensembl
OuterchrX:111343371..111384193hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385002
hg195002
hg185002
hg175002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620955
SamplesNA15510
Known GenesZCCHC16
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)nsv508792
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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