A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650



Internal ID15550481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20212451..20245780hg38UCSC Ensembl
Outerchr7:20252074..20285403hg19UCSC Ensembl
Outerchr7:20218599..20251928hg18UCSC Ensembl
Outerchr7:20025314..20058643hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg386422
hg196422
hg186422
hg176422
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3508
SamplesNA12878
Known GenesMACC1
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)nsv5650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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