A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508754



Internal ID8791695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18860991..18936545hg38UCSC Ensembl
OuterchrX:18879109..18954663hg19UCSC Ensembl
OuterchrX:18789030..18864584hg18UCSC Ensembl
OuterchrX:18638766..18714320hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg383219
hg193219
hg183219
hg173219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619579
SamplesNA10860
Known GenesPHKA2, PHKA2-AS1
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)nsv508754
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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