A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4547



Internal ID15539274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61929246..61972978hg38UCSC Ensembl
Outerchr20:60504304..60548034hg19UCSC Ensembl
Outerchr20:59937699..59981429hg18UCSC Ensembl
Outerchr20:59937699..59981429hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3843733
hg1943731
hg1843731
hg1743731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3439
Supporting Variants
SamplesNA12878
Known GenesCDH4, MIR1257
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)nssv4547
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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