A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619597



Internal ID15818178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90263058..90289264hg38UCSC Ensembl
OuterchrX:89518057..89544263hg19UCSC Ensembl
OuterchrX:89404713..89430919hg18UCSC Ensembl
OuterchrX:89324202..89350408hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg387607
hg197607
hg187607
hg177607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508786
Supporting Variants
SamplesNA10860
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)nssv619597
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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