A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623714



Internal ID15475601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45481218..45534031hg38UCSC Ensembl
Outerchr17:43558584..43611397hg19UCSC Ensembl
Outerchr17:40914367..40967180hg18UCSC Ensembl
Outerchr17:40914367..40967180hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3818662
hg1918662
hg1818662
hg1718662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509659
Supporting Variants
SamplesNA18994
Known GenesLRRC37A4P, PLEKHM1
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)nssv623714
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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