A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508807



Internal ID15824834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:144027636..144076191hg38UCSC Ensembl
OuterchrX:143110742..143159297hg19UCSC Ensembl
OuterchrX:142938405..142986957hg18UCSC Ensembl
OuterchrX:142836259..142884811hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg383242
hg193242
hg183242
hg173242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623610
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)nsv508807
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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