A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508794



Internal ID15824821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115712814..115969428hg38UCSC Ensembl
OuterchrX:114947134..115085761hg19UCSC Ensembl
OuterchrX:114853390..114999789hg18UCSC Ensembl
OuterchrX:114770114..114897643hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38124931
hg19124931
hg18124931
hg17124931
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619600, nssv620956
SamplesNA15510, 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)nsv508794
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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