A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509641



Internal ID15825667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:90034694..90120573hg38UCSC Ensembl
Outerchr16:90101102..90186981hg19UCSC Ensembl
Outerchr16:88628603..88714482hg18UCSC Ensembl
Outerchr16:88628603..88714482hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg384419
hg194419
hg184419
hg174419
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619700
SamplesNA10860
Known GenesGAS8, PRDM7, URAHP
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)nsv509641
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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