A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2508



Internal ID15547071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45976251..45981252hg38UCSC Ensembl
Outerchr19:46479509..46484510hg19UCSC Ensembl
Outerchr19:51171349..51176350hg18UCSC Ensembl
Outerchr19:51171349..51176350hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg387955
hg197955
hg187955
hg177955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9856
SamplesNA18507
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)nsv2508
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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