A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv378



Internal ID15544948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:22752064..22785192hg38UCSC Ensembl
Outerchr4:22753687..22786815hg19UCSC Ensembl
Outerchr4:22362785..22395913hg18UCSC Ensembl
Outerchr4:22429956..22463084hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg387842
hg197842
hg187842
hg177842
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4272
Supporting Variants
SamplesNA19240
Known GenesGBA3
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)nssv378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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