A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7946



Internal ID15189232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40796057..40823222hg38UCSC Ensembl
Outerchr4:40798074..40825239hg19UCSC Ensembl
Outerchr4:40492831..40519996hg18UCSC Ensembl
Outerchr4:40639002..40666167hg17UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3827166
hg1927166
hg1827166
hg1727166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4307
Supporting Variants
SamplesNA12156
Known GenesAPBB2, NSUN7
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)nssv7946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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