A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618684



Internal ID15816490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:6520912..6540019hg38UCSC Ensembl
OuterchrX:6438953..6458060hg19UCSC Ensembl
OuterchrX:6448953..6468060hg18UCSC Ensembl
OuterchrX:6298689..6317796hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg3819108
hg1919108
hg1819108
hg1719108
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511080
Supporting Variants
SamplesCHM
Known GenesVCX3A
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)nssv618684
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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