A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508795



Internal ID15824822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:117782884..117841992hg38UCSC Ensembl
OuterchrX:116916847..116975955hg19UCSC Ensembl
OuterchrX:116800875..116859983hg18UCSC Ensembl
OuterchrX:116698729..116757837hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg384414
hg194414
hg184414
hg174414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623601
SamplesNA18994
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)nsv508795
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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