A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507998



Internal ID15824028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:137932930..137938930hg38UCSC Ensembl
OuterchrX:137015089..137021089hg19UCSC Ensembl
OuterchrX:136842755..136848755hg18UCSC Ensembl
OuterchrX:136740609..136746609hg17UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621976, nssv620488
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)nsv507998
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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