A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5830



Internal ID15543565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160433933..160465670hg38UCSC Ensembl
Outerchr2:161290444..161322181hg19UCSC Ensembl
Outerchr2:160998690..161030427hg18UCSC Ensembl
Outerchr2:161115951..161147688hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg387536
hg197536
hg187536
hg177536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3000
Supporting Variants
SamplesNA19129
Known GenesRBMS1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv5830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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