A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5744



Internal ID15550584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:51680809..51710758hg38UCSC Ensembl
Outerchr7:51748505..51778454hg19UCSC Ensembl
Outerchr7:51715999..51745948hg18UCSC Ensembl
Outerchr7:51522714..51552663hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg387956
hg197956
hg187956
hg177956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv631
SamplesNA19240
Known Genes
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)nsv5744
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