A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719



Internal ID15550556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42681727..42704677hg38UCSC Ensembl
Outerchr7:42721326..42744276hg19UCSC Ensembl
Outerchr7:42687851..42710801hg18UCSC Ensembl
Outerchr7:42494566..42517516hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg386530
hg196530
hg186530
hg176530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10540
SamplesNA18956
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)nsv5719
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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