A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623619



Internal ID15475506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155797676..155833236hg38UCSC Ensembl
OuterchrX:155027338..155062899hg19UCSC Ensembl
OuterchrX:154680532..154716093hg18UCSC Ensembl
OuterchrX:154591042..154626603hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383027
hg193027
hg183027
hg173027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508818
Supporting Variants
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)nssv623619
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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