A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699



Internal ID15203848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:35681099..35731720hg38UCSC Ensembl
Outerchr7:35720709..35771330hg19UCSC Ensembl
Outerchr7:35687234..35737855hg18UCSC Ensembl
Outerchr7:35493949..35544570hg17UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg386308
hg196308
hg186308
hg176308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519, nssv8361
SamplesNA12156, NA12878
Known GenesHERPUD2, LOC100506725
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)nsv5699
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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