A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508814



Internal ID15824841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:152277720..152305500hg38UCSC Ensembl
OuterchrX:151446192..151473972hg19UCSC Ensembl
OuterchrX:151196848..151224628hg18UCSC Ensembl
OuterchrX:151116760..151144540hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383177
hg193177
hg183177
hg173177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623614
SamplesNA18994
Known GenesGABRA3
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)nsv508814
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer