A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5383



Internal ID15203501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85593505..85638305hg38UCSC Ensembl
Outerchr6:86303223..86348023hg19UCSC Ensembl
Outerchr6:86359942..86404742hg18UCSC Ensembl
Outerchr6:86359942..86404742hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3844801
hg1944801
hg1844801
hg1744801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8272
SamplesNA12156
Known GenesSNX14, SYNCRIP
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)nsv5383
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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