A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4480



Internal ID15192521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173190146..173223386hg38UCSC Ensembl
Outerchr2:174054874..174088114hg19UCSC Ensembl
Outerchr2:173763120..173796360hg18UCSC Ensembl
Outerchr2:173880381..173913621hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386510
hg196510
hg186510
hg176510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3037
Supporting Variants
SamplesNA12878
Known GenesMLK7-AS1, ZAK
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)nssv4480
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