A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623711



Internal ID15475598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18328532..18406188hg38UCSC Ensembl
Outerchr17:18231846..18309502hg19UCSC Ensembl
Outerchr17:18172571..18250227hg18UCSC Ensembl
Outerchr17:18172571..18250227hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg386828
hg196828
hg186828
hg176828
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509653
Supporting Variants
SamplesNA18994
Known GenesEVPLL, MIR6778, SHMT1
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)nssv623711
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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