A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508750



Internal ID15824777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5047228..5068988hg38UCSC Ensembl
OuterchrX:4965269..4987029hg19UCSC Ensembl
OuterchrX:4975269..4997029hg18UCSC Ensembl
OuterchrX:4825005..4846765hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg388642
hg198642
hg188642
hg178642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623577, nssv619577, nssv620939
SamplesNA15510, NA18994, NA10860
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)nsv508750
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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