A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4412



Internal ID15202433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87316661..87362216hg38UCSC Ensembl
Outerchr4:88237813..88283368hg19UCSC Ensembl
Outerchr4:88456837..88502392hg18UCSC Ensembl
Outerchr4:88594992..88640547hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3845556
hg1945556
hg1845556
hg1745556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9398, nssv7977, nssv4761, nssv3268
SamplesNA18517, NA19129, NA12156, NA12878
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)nsv4412
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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