A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510828



Internal ID15826853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:39957882..40015573hg38UCSC Ensembl
OuterchrX:39817136..39874826hg19UCSC Ensembl
OuterchrX:39702080..39759770hg18UCSC Ensembl
OuterchrX:39573360..39631050hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg3857692
hg1957691
hg1857691
hg1757691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622629
SamplesNA18994
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)nsv510828
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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