A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3292



Internal ID15538020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146301716..146315460hg38UCSC Ensembl
Outerchr4:147222868..147236612hg19UCSC Ensembl
Outerchr4:147442318..147456062hg18UCSC Ensembl
Outerchr4:147580473..147594217hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg387181
hg197181
hg187181
hg177181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4537
Supporting Variants
SamplesNA12878
Known GenesSLC10A7
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)nssv3292
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