A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619499



Internal ID15818080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108176527..108208003hg38UCSC Ensembl
Outerchr7:107816972..107848447hg19UCSC Ensembl
Outerchr7:107604208..107635683hg18UCSC Ensembl
Outerchr7:107410923..107442398hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg385301
hg195301
hg185301
hg175301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509220
Supporting Variants
SamplesNA10860
Known GenesNRCAM
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)nssv619499
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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