A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1622



Internal ID15198762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29084659..29119954hg38UCSC Ensembl
Outerchr21:30456980..30492275hg19UCSC Ensembl
Outerchr21:29378851..29414146hg18UCSC Ensembl
Outerchr21:29378851..29414146hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg385688
hg195688
hg185688
hg175688
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3486
Supporting Variants
SamplesNA19240
Known GenesMAP3K7CL
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)nssv1622
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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