A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623800



Internal ID15475687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156052794..156178790hg38UCSC Ensembl
Outerchr1:156022585..156148581hg19UCSC Ensembl
Outerchr1:154289209..154415205hg18UCSC Ensembl
Outerchr1:152835658..152961654hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg386993
hg196993
hg186993
hg176993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509513
Supporting Variants
SamplesNA18994
Known GenesLAMTOR2, LMNA, MEX3A, MIR7851, RAB25, SEMA4A, UBQLN4
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)nssv623800
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer