A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5595



Internal ID15550420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168492239..168536917hg38UCSC Ensembl
Outerchr6:168892919..168937597hg19UCSC Ensembl
Outerchr6:168635768..168680446hg18UCSC Ensembl
Outerchr6:168711475..168756153hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3844679
hg1944679
hg1844679
hg1744679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8328
SamplesNA12156
Known GenesSMOC2
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)nsv5595
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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