A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4708



Internal ID15543297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:193410235..193440351hg38UCSC Ensembl
Outerchr3:193128024..193158140hg19UCSC Ensembl
Outerchr3:194610718..194640834hg18UCSC Ensembl
Outerchr3:194610726..194640842hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3830117
hg1930117
hg1830117
hg1730117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175
Supporting Variants
SamplesNA19129
Known GenesATP13A4
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)nssv4708
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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