A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618882



Internal ID15818686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:117997171..118087017hg38UCSC Ensembl
OuterchrX:117131134..117220980hg19UCSC Ensembl
OuterchrX:117015162..117105008hg18UCSC Ensembl
OuterchrX:116913016..117002862hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3889847
hg1989847
hg1889847
hg1789847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510855
Supporting Variants
SamplesNA10860
Known GenesKLHL13
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)nssv618882
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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