A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7948



Internal ID15535916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44209716..44254373hg38UCSC Ensembl
Outerchr4:44211733..44256390hg19UCSC Ensembl
Outerchr4:43906490..43951147hg18UCSC Ensembl
Outerchr4:44052661..44097318hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3844658
hg1944658
hg1844658
hg1744658
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4317
Supporting Variants
SamplesNA12156
Known GenesKCTD8
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)nssv7948
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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