A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508800



Internal ID15476299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129586518..129662478hg38UCSC Ensembl
OuterchrX:128720495..128796455hg19UCSC Ensembl
OuterchrX:128548176..128624136hg18UCSC Ensembl
OuterchrX:128446030..128521990hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383414
hg193414
hg183414
hg173414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619603
SamplesNA10860
Known GenesAPLN, OCRL
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)nsv508800
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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