A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6808



Internal ID15537055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1219783..1247686hg38UCSC Ensembl
Outerchr2:1215469..1251458hg19UCSC Ensembl
Outerchr2:1205470..1234009hg18UCSC Ensembl
Outerchr2:1205470..1234009hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg387304
hg197304
hg187304
hg177304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2565
Supporting Variants
SamplesNA12156
Known GenesSNTG2
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)nssv6808
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