A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4124



Internal ID15538851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73767485..73797316hg38UCSC Ensembl
Outerchr14:74234188..74264019hg19UCSC Ensembl
Outerchr14:73303941..73333772hg18UCSC Ensembl
Outerchr14:73303941..73333772hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3829832
hg1929832
hg1829832
hg1729832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1351
Supporting Variants
SamplesNA12878
Known GenesELMSAN1
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)nssv4124
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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