A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510827



Internal ID15826852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:38708885..38731851hg38UCSC Ensembl
OuterchrX:38568139..38591105hg19UCSC Ensembl
OuterchrX:38453083..38476049hg18UCSC Ensembl
OuterchrX:38324356..38347322hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3822967
hg1922967
hg1822967
hg1722967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620035, nssv622628
SamplesNA15510, NA18994
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)nsv510827
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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