A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508756



Internal ID15824783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27744422..27779117hg38UCSC Ensembl
OuterchrX:27762539..27797234hg19UCSC Ensembl
OuterchrX:27672460..27707155hg18UCSC Ensembl
OuterchrX:27522196..27556891hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg383286
hg193286
hg183286
hg173286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623581
SamplesNA18994
Known GenesDCAF8L2
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)nsv508756
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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