A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv390



Internal ID15545039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56661515..56694784hg38UCSC Ensembl
Outerchr4:57527681..57560950hg19UCSC Ensembl
Outerchr4:57222438..57255707hg18UCSC Ensembl
Outerchr4:57368609..57401878hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3833270
hg1933270
hg1833270
hg1733270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4348
Supporting Variants
SamplesNA19240
Known GenesHOPX
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)nssv390
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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