A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510819



Internal ID15478315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:21320609..21383257hg38UCSC Ensembl
OuterchrX:21338727..21401375hg19UCSC Ensembl
OuterchrX:21248648..21311296hg18UCSC Ensembl
OuterchrX:21098384..21161032hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg3862649
hg1962649
hg1862649
hg1762649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622622
SamplesNA18994
Known GenesCNKSR2
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)nsv510819
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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