A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2722



Internal ID15541853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37506666..37510327hg38UCSC Ensembl
Outerchr6:37474442..37478103hg19UCSC Ensembl
Outerchr6:37582420..37586081hg18UCSC Ensembl
Outerchr6:37582420..37586081hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg385691
hg195691
hg185691
hg175691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5266
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2722
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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