A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508808



Internal ID15476307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147234643..147291564hg38UCSC Ensembl
OuterchrX:146316161..146373082hg19UCSC Ensembl
OuterchrX:146123853..146180774hg18UCSC Ensembl
OuterchrX:146021707..146078628hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg386997
hg196997
hg186997
hg176997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620962, nssv618153
SamplesCHM, NA15510
Known GenesMIR508, MIR509-1, MIR509-2, MIR509-3, MIR510, MIR514A1, MIR514A2, MIR514A3, MIR514B
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)nsv508808
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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