A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723



Internal ID15203875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44841314..44875256hg38UCSC Ensembl
Outerchr7:44880913..44914855hg19UCSC Ensembl
Outerchr7:44847438..44881380hg18UCSC Ensembl
Outerchr7:44654153..44688095hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385790
hg195790
hg185790
hg175790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524
SamplesNA12878
Known GenesH2AFV
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)nsv5723
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