A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508771



Internal ID15476270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50319296..50425828hg38UCSC Ensembl
OuterchrX:50062296..50168826hg19UCSC Ensembl
OuterchrX:50079036..50185566hg18UCSC Ensembl
OuterchrX:49895332..50001862hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg384234
hg194234
hg184234
hg174234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620947
SamplesNA15510
Known GenesCCNB3, DGKK
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)nsv508771
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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