A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619587



Internal ID15818168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50031672..50058403hg38UCSC Ensembl
OuterchrX:49796281..49823060hg19UCSC Ensembl
OuterchrX:49683021..49709800hg18UCSC Ensembl
OuterchrX:49499317..49526096hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg384271
hg194271
hg184271
hg174271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508770
Supporting Variants
SamplesNA10860
Known GenesCLCN5
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)nssv619587
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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