A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4414



Internal ID15192455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42172405..42206759hg38UCSC Ensembl
Outerchr2:42399545..42433899hg19UCSC Ensembl
Outerchr2:42253049..42287403hg18UCSC Ensembl
Outerchr2:42311196..42345550hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg385387
hg195387
hg185387
hg175387
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2705
Supporting Variants
SamplesNA12878
Known GenesEML4
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)nssv4414
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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