A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509193



Internal ID15476691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:23478321..23507718hg38UCSC Ensembl
Outerchr7:23517940..23547337hg19UCSC Ensembl
Outerchr7:23484465..23513862hg18UCSC Ensembl
Outerchr7:23291180..23320577hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg383035
hg193035
hg183035
hg173035
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623506, nssv619480
SamplesNA18994, NA10860
Known GenesRPS2P32, TRA2A
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)nsv509193
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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