A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3228



Internal ID15191270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1387665..1421471hg38UCSC Ensembl
Outerchr4:1381453..1415259hg19UCSC Ensembl
Outerchr4:1371453..1405259hg18UCSC Ensembl
Outerchr4:1371283..1405089hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384944
hg194944
hg184944
hg174944
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4197
Supporting Variants
SamplesNA12878
Known GenesCRIPAK, UVSSA
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)nssv3228
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