A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618891



Internal ID15472009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151936314..151987045hg38UCSC Ensembl
OuterchrX:151104786..151155517hg19UCSC Ensembl
OuterchrX:150855442..150906173hg18UCSC Ensembl
OuterchrX:150775354..150826085hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3850732
hg1950732
hg1850732
hg1750732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510867
Supporting Variants
SamplesNA10860
Known GenesGABRE, MIR224, MIR452
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)nssv618891
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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