A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1314



Internal ID15197719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67868325..67912213hg38UCSC Ensembl
Outerchr16:67902228..67946116hg19UCSC Ensembl
Outerchr16:66459729..66503617hg18UCSC Ensembl
Outerchr16:66459729..66503617hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3843889
hg1943889
hg1843889
hg1743889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1844
Supporting Variants
SamplesNA19240
Known GenesEDC4, NRN1L, NUTF2, PSKH1
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)nssv1314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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