A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5815



Internal ID15203976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82147405..82179963hg38UCSC Ensembl
Outerchr7:81776721..81809279hg19UCSC Ensembl
Outerchr7:81614657..81647215hg18UCSC Ensembl
Outerchr7:81421372..81453930hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387468
hg197468
hg187468
hg177468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2669
SamplesNA18555
Known GenesCACNA2D1
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)nsv5815
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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