A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv358



Internal ID15198074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180414821..180441125hg38UCSC Ensembl
Outerchr1:180383956..180410260hg19UCSC Ensembl
Outerchr1:178650579..178676883hg18UCSC Ensembl
Outerchr1:177115613..177141917hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388017
hg198017
hg188017
hg178017
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3766
Supporting Variants
SamplesNA19240
Known GenesACBD6, MIR3121
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)nssv358
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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