A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2019



Internal ID15199896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28772929..28811480hg38UCSC Ensembl
Outerchr17:27099947..27138498hg19UCSC Ensembl
Outerchr17:24124073..24162624hg18UCSC Ensembl
Outerchr17:24124073..24162624hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385330
hg195330
hg185330
hg175330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2963, nssv7319
SamplesNA12156, NA18555
Known GenesFAM222B
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)nsv2019
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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