A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2687



Internal ID15195205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14691303..14725902hg38UCSC Ensembl
Outerchr5:14691412..14726011hg19UCSC Ensembl
Outerchr5:14744412..14779011hg18UCSC Ensembl
Outerchr5:14744412..14779011hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg385428
hg195428
hg185428
hg175428
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4728
Supporting Variants
SamplesNA18555
Known GenesANKH, FAM105B, LOC100130744
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)nssv2687
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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