A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2375



Internal ID15546938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78921576..78954697hg38UCSC Ensembl
Outerchr18:76681576..76714697hg19UCSC Ensembl
Outerchr18:74782564..74815685hg18UCSC Ensembl
Outerchr18:74782564..74815685hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg386623
hg196623
hg186623
hg176623
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4335
SamplesNA12878
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)nsv2375
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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