A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618881



Internal ID15471999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:106692140..106700873hg38UCSC Ensembl
OuterchrX:105935370..105944103hg19UCSC Ensembl
OuterchrX:105822026..105830759hg18UCSC Ensembl
OuterchrX:105741515..105750248hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg388734
hg198734
hg188734
hg178734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510852
Supporting Variants
SamplesNA10860
Known GenesRNF128
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)nssv618881
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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