A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123



Internal ID15548801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:174133897..174167768hg38UCSC Ensembl
Outerchr3:173851687..173885558hg19UCSC Ensembl
Outerchr3:175334381..175368252hg18UCSC Ensembl
Outerchr3:175334389..175368260hg17UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg385408
hg195408
hg185408
hg175408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4697
SamplesNA19129
Known GenesNLGN1
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)nsv4123
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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