A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6782



Internal ID15190396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34240256..34252341hg38UCSC Ensembl
Outerchr19:34731161..34743246hg19UCSC Ensembl
Outerchr19:39423001..39435086hg18UCSC Ensembl
Outerchr19:39423001..39435086hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg387947
hg197947
hg187947
hg177947
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2468
Supporting Variants
SamplesNA12156
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)nssv6782
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