A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv320



Internal ID15198352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123251695..123286279hg38UCSC Ensembl
Outerchr3:122970542..123005126hg19UCSC Ensembl
Outerchr3:124453232..124487816hg18UCSC Ensembl
Outerchr3:124453232..124487816hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386417
hg196417
hg186417
hg176417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3976
Supporting Variants
SamplesNA19240
Known GenesADCY5, SEC22A
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)nssv320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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