A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508796



Internal ID15824823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123113267..123143859hg38UCSC Ensembl
OuterchrX:122247120..122277712hg19UCSC Ensembl
OuterchrX:122074801..122105393hg18UCSC Ensembl
OuterchrX:121972655..122003247hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg384875
hg194875
hg184875
hg174875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618150, nssv623602, nssv619601, nssv620957
SamplesCHM, NA15510, NA18994, NA10860
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)nsv508796
Frequency
Sample Size4
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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