A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618146



Internal ID15815951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:9402563..9419260hg38UCSC Ensembl
OuterchrX:9370603..9387300hg19UCSC Ensembl
OuterchrX:9330603..9347300hg18UCSC Ensembl
OuterchrX:9180339..9197036hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg388304
hg198304
hg188304
hg178304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508753
Supporting Variants
SamplesCHM
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)nssv618146
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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