A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4713



Internal ID15543288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196810157..196814224hg38UCSC Ensembl
Outerchr3:196537028..196541095hg19UCSC Ensembl
Outerchr3:198021425..198025492hg18UCSC Ensembl
Outerchr3:198025338..198029405hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386414
hg196414
hg186414
hg176414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4184
Supporting Variants
SamplesNA19129
Known GenesPAK2
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)nssv4713
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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