A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2927



Internal ID15541627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100640953..100675541hg38UCSC Ensembl
Outerchr14:101107290..101141878hg19UCSC Ensembl
Outerchr14:100177043..100211631hg18UCSC Ensembl
Outerchr14:100177043..100211631hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385443
hg195443
hg185443
hg175443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1424
Supporting Variants
SamplesNA18555
Known GenesLINC00523
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)nssv2927
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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