A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510842



Internal ID8793780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:83506795..83549438hg38UCSC Ensembl
OuterchrX:82761803..82804446hg19UCSC Ensembl
OuterchrX:82648459..82691102hg18UCSC Ensembl
OuterchrX:82567948..82610591hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3842644
hg1942644
hg1842644
hg1742644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618874
SamplesNA10860
Known GenesPOU3F4
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)nsv510842
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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