A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508995



Internal ID15825021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7590240..7720385hg38UCSC Ensembl
Outerchr4:7591967..7722112hg19UCSC Ensembl
Outerchr4:7642867..7773012hg18UCSC Ensembl
Outerchr4:7710038..7840183hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg388191
hg198191
hg188191
hg178191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619369
SamplesNA10860
Known GenesSORCS2
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)nsv508995
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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