A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508777



Internal ID15824804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56739568..56816732hg38UCSC Ensembl
OuterchrX:56766001..56843165hg19UCSC Ensembl
OuterchrX:56782726..56859890hg18UCSC Ensembl
OuterchrX:56649022..56726186hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3818366
hg1918366
hg1818366
hg1718366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620950, nssv619592
SamplesNA15510, NA10860
Known GenesLOC550643
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)nsv508777
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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