A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2469



Internal ID15200346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34442956..34476603hg38UCSC Ensembl
Outerchr19:34933861..34967508hg19UCSC Ensembl
Outerchr19:39625701..39659348hg18UCSC Ensembl
Outerchr19:39625701..39659348hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386102
hg196102
hg186102
hg176102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4355
SamplesNA12878
Known GenesUBA2
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)nsv2469
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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