A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1912



Internal ID15546475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85055662..85068689hg38UCSC Ensembl
Outerchr16:85089268..85102295hg19UCSC Ensembl
Outerchr16:83646769..83659796hg18UCSC Ensembl
Outerchr16:83646769..83659796hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg388428
hg198428
hg188428
hg178428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1330
SamplesNA19240
Known GenesKIAA0513
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)nsv1912
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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