A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2157



Internal ID15546720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79074896..79105704hg38UCSC Ensembl
Outerchr17:77070978..77101786hg19UCSC Ensembl
Outerchr17:74582573..74613381hg18UCSC Ensembl
Outerchr17:74582573..74613381hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388630
hg198630
hg188630
hg178630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6732
SamplesNA12156
Known GenesENGASE, RBFOX3
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)nsv2157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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