A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3268



Internal ID15191310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87332415..87362216hg38UCSC Ensembl
Outerchr4:88253567..88283368hg19UCSC Ensembl
Outerchr4:88472591..88502392hg18UCSC Ensembl
Outerchr4:88610746..88640547hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3829802
hg1929802
hg1829802
hg1729802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4412
Supporting Variants
SamplesNA12878
Known GenesHSD17B11
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)nssv3268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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