A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5177



Internal ID15203274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2998306..3031324hg38UCSC Ensembl
Outerchr6:2998540..3031558hg19UCSC Ensembl
Outerchr6:2943539..2976557hg18UCSC Ensembl
Outerchr6:2943539..2976557hg17UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg386717
hg196717
hg186717
hg176717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3415
SamplesNA12878
Known GenesHTATSF1P2, NQO2
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)nsv5177
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