A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2396



Internal ID15200273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6232823..6250630hg38UCSC Ensembl
Outerchr19:6232834..6250641hg19UCSC Ensembl
Outerchr19:6183834..6201641hg18UCSC Ensembl
Outerchr19:6183834..6201641hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385815
hg195815
hg185815
hg175815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7426
SamplesNA12156
Known GenesMLLT1
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)nsv2396
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