A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510833



Internal ID15826858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56739568..56815304hg38UCSC Ensembl
OuterchrX:56766001..56841737hg19UCSC Ensembl
OuterchrX:56782726..56858462hg18UCSC Ensembl
OuterchrX:56649022..56724758hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3875737
hg1975737
hg1875737
hg1775737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622634
SamplesNA18994
Known GenesLOC550643
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)nsv510833
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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