A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611



Internal ID15203752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:883838..910548hg38UCSC Ensembl
Outerchr7:923475..950185hg19UCSC Ensembl
Outerchr7:890001..916711hg18UCSC Ensembl
Outerchr7:696716..723426hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg386301
hg196301
hg186301
hg176301
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv607, nssv3497, nssv2748, nssv4961
SamplesNA19129, NA12878, NA19240, NA18555
Known GenesADAP1, GET4
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)nsv5611
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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