A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2433



Internal ID15540698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179384796..179418003hg38UCSC Ensembl
Outerchr3:179102584..179135791hg19UCSC Ensembl
Outerchr3:180585278..180618485hg18UCSC Ensembl
Outerchr3:180585286..180618493hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg386788
hg196788
hg186788
hg176788
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139
Supporting Variants
SamplesNA18555
Known GenesGNB4, MFN1
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)nssv2433
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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