A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2439



Internal ID15547002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21004119..21036834hg38UCSC Ensembl
Outerchr19:21186925..21219640hg19UCSC Ensembl
Outerchr19:20978765..21011480hg18UCSC Ensembl
Outerchr19:20978765..21011480hg17UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg386725
hg196725
hg186725
hg176725
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6776
SamplesNA12156
Known GenesZNF430
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)nsv2439
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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