A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620950



Internal ID15820301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56739568..56815304hg38UCSC Ensembl
OuterchrX:56766001..56841737hg19UCSC Ensembl
OuterchrX:56782726..56858462hg18UCSC Ensembl
OuterchrX:56649022..56724758hg17UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3820287
hg1920287
hg1820287
hg1720287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508777
Supporting Variants
SamplesNA15510
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)nssv620950
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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