A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3388



Internal ID15547992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44266426..44296529hg38UCSC Ensembl
Outerchr20:42895066..42925169hg19UCSC Ensembl
Outerchr20:42328480..42358583hg18UCSC Ensembl
Outerchr20:42328480..42358583hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg387330
hg197330
hg187330
hg177330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5878
SamplesNA19129
Known GenesGDAP1L1
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)nsv3388
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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