A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510857



Internal ID15826882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:122060392..122102382hg38UCSC Ensembl
OuterchrX:121194245..121236235hg19UCSC Ensembl
OuterchrX:121021926..121063916hg18UCSC Ensembl
OuterchrX:120919780..120961770hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3841991
hg1941991
hg1841991
hg1741991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618884
SamplesNA10860
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)nsv510857
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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