A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508810



Internal ID15476309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150498559..150582211hg38UCSC Ensembl
OuterchrX:149666830..149750671hg19UCSC Ensembl
OuterchrX:149417488..149501329hg18UCSC Ensembl
OuterchrX:149337398..149421239hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384935
hg194935
hg184935
hg174935
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623611
SamplesNA18994
Known GenesMAMLD1, MTM1
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)nsv508810
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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