A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2467



Internal ID15547030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34218112..34221796hg38UCSC Ensembl
Outerchr19:34709017..34712701hg19UCSC Ensembl
Outerchr19:39400857..39404541hg18UCSC Ensembl
Outerchr19:39400857..39404541hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg387908
hg197908
hg187908
hg177908
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6781
SamplesNA12156
Known GenesLSM14A
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)nsv2467
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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