A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2120



Internal ID15546683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64454386..64465917hg38UCSC Ensembl
Outerchr17:59880975..59892495hg18UCSC Ensembl
Outerchr17:59880975..59892495hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg386864
hg186864
hg176864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5667
SamplesNA19129
Known GenesMILR1
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)nsv2120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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