A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621014



Internal ID15820364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:56559502..56583880hg38UCSC Ensembl
Outerchr10:58319262..58343640hg19UCSC Ensembl
Outerchr10:57989268..58013646hg18UCSC Ensembl
Outerchr10:57989268..58013646hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383640
hg193640
hg183640
hg173640
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509355
Supporting Variants
SamplesNA15510
Known Genes
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)nssv621014
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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