A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319



Internal ID15202330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44671518..44716896hg38UCSC Ensembl
Outerchr4:44673535..44718913hg19UCSC Ensembl
Outerchr4:44368292..44413670hg18UCSC Ensembl
Outerchr4:44514463..44559841hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3845379
hg1945379
hg1845379
hg1745379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7079
SamplesNA12156
Known GenesGNPDA2, GUF1
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)nsv4319
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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