A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4785



Internal ID15543161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:146301509..146310070hg38UCSC Ensembl
Outerchr4:147222661..147231222hg19UCSC Ensembl
Outerchr4:147442111..147450672hg18UCSC Ensembl
Outerchr4:147580266..147588827hg17UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg387727
hg197727
hg187727
hg177727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4537
Supporting Variants
SamplesNA19129
Known GenesSLC10A7
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)nssv4785
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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