A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6112



Internal ID15537751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:2626956..2657598hg38UCSC Ensembl
Outerchr7:2666590..2697232hg19UCSC Ensembl
Outerchr7:2633116..2663758hg18UCSC Ensembl
Outerchr7:2439831..2470473hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg388787
hg198787
hg188787
hg178787
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618
Supporting Variants
SamplesNA12156
Known GenesTTYH3
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)nssv6112
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