A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4404



Internal ID15202424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:81419832..81464994hg38UCSC Ensembl
Outerchr4:82340986..82386148hg19UCSC Ensembl
Outerchr4:82560010..82605172hg18UCSC Ensembl
Outerchr4:82698165..82743327hg17UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3845163
hg1945163
hg1845163
hg1745163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7974
SamplesNA12156
Known GenesRASGEF1B
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)nsv4404
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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