A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510816



Internal ID15478312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13868185..13933089hg38UCSC Ensembl
OuterchrX:13886304..13951208hg19UCSC Ensembl
OuterchrX:13796225..13861129hg18UCSC Ensembl
OuterchrX:13645961..13710865hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3864905
hg1964905
hg1864905
hg1764905
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618864
SamplesNA10860
Known GenesGPM6B
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)nsv510816
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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