A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623506



Internal ID15475393
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
hg383354
hg193354
hg183354
hg173354
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509193
Supporting Variants
SamplesNA18994
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)nssv623506
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer