A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623856



Internal ID15822429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1824144..1873204hg38UCSC Ensembl
Outerchr2:1827916..1876976hg19UCSC Ensembl
Outerchr2:1806923..1855983hg18UCSC Ensembl
Outerchr2:1798213..1847273hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383115
hg193115
hg183115
hg173115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508801
Supporting Variants
SamplesNA18994
Known GenesMYT1L
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)nssv623856
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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