A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9398



Internal ID15193663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87316661..87357869hg38UCSC Ensembl
Outerchr4:88237813..88279021hg19UCSC Ensembl
Outerchr4:88456837..88498045hg18UCSC Ensembl
Outerchr4:88594992..88636200hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3841209
hg1941209
hg1841209
hg1741209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4412
Supporting Variants
SamplesNA18517
Known GenesHSD17B11, HSD17B13
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)nssv9398
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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