A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5642



Internal ID15203786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:13956910..13990762hg38UCSC Ensembl
Outerchr7:13996535..14030387hg19UCSC Ensembl
Outerchr7:13963060..13996912hg18UCSC Ensembl
Outerchr7:13769775..13803627hg17UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg386160
hg196160
hg186160
hg176160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2754
SamplesNA18555
Known GenesETV1
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)nsv5642
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