A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4220



Internal ID15192261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:67875122..67916590hg38UCSC Ensembl
Outerchr16:67909025..67950493hg19UCSC Ensembl
Outerchr16:66466526..66507994hg18UCSC Ensembl
Outerchr16:66466526..66507994hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3841469
hg1941469
hg1841469
hg1741469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1844
Supporting Variants
SamplesNA12878
Known GenesEDC4, NRN1L, 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)nssv4220
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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