A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619799



Internal ID15471694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53456736..53520999hg38UCSC Ensembl
Outerchr1:53922409..53986672hg19UCSC Ensembl
Outerchr1:53694997..53759260hg18UCSC Ensembl
Outerchr1:53634430..53698693hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384012
hg194012
hg184012
hg174012
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509269
Supporting Variants
SamplesNA10860
Known GenesDMRTB1, GLIS1
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)nssv619799
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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