A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623595



Internal ID15822168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:89201476..89219984hg38UCSC Ensembl
OuterchrX:88456475..88474983hg19UCSC Ensembl
OuterchrX:88343131..88361639hg18UCSC Ensembl
OuterchrX:88262620..88281128hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg389352
hg199352
hg189352
hg179352
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508785
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)nssv623595
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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