A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414



Internal ID15201335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51020826..51052886hg38UCSC Ensembl
Outerchr20:49637363..49669423hg19UCSC Ensembl
Outerchr20:49070770..49102830hg18UCSC Ensembl
Outerchr20:49070770..49102830hg17UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387970
hg197970
hg187970
hg177970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2339
SamplesNA18555
Known GenesKCNG1
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)nsv3414
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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