A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620043



Internal ID15472714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151858097..151930089hg38UCSC Ensembl
OuterchrX:151026569..151098561hg19UCSC Ensembl
OuterchrX:150777225..150849217hg18UCSC Ensembl
OuterchrX:150697137..150769129hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3871993
hg1971993
hg1871993
hg1771993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510866
Supporting Variants
SamplesNA15510
Known GenesMAGEA4
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)nssv620043
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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