A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4494



Internal ID15202523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121335683..121369306hg38UCSC Ensembl
Outerchr4:122256838..122290461hg19UCSC Ensembl
Outerchr4:122476288..122509911hg18UCSC Ensembl
Outerchr4:122614443..122648066hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3833624
hg1933624
hg1833624
hg1733624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2480
SamplesNA18555
Known GenesQRFPR
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)nsv4494
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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