A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2748



Internal ID15541824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:903258..908775hg38UCSC Ensembl
Outerchr7:942895..948412hg19UCSC Ensembl
Outerchr7:909421..914938hg18UCSC Ensembl
Outerchr7:716136..721653hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg386331
hg196331
hg186331
hg176331
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611
Supporting Variants
SamplesNA18555
Known GenesADAP1
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)nssv2748
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