A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3120



Internal ID15540855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179335645..179370196hg38UCSC Ensembl
Outerchr3:179053433..179087984hg19UCSC Ensembl
Outerchr3:180536127..180570678hg18UCSC Ensembl
Outerchr3:180536135..180570686hg17UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385443
hg195443
hg185443
hg175443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4138
Supporting Variants
SamplesNA18555
Known GenesMFN1
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)nssv3120
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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