A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617998



Internal ID15817153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210643784..210664318hg38UCSC Ensembl
Outerchr1:210817128..210837665hg19UCSC Ensembl
Outerchr1:208883751..208904288hg18UCSC Ensembl
Outerchr1:207205523..207226060hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384876
hg194876
hg184876
hg174876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509624
Supporting Variants
SamplesCHM
Known GenesHHAT
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)nssv617998
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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