A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1200



Internal ID15544531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63934589..63967946hg38UCSC Ensembl
Outerchr14:64401307..64434664hg19UCSC Ensembl
Outerchr14:63471060..63504417hg18UCSC Ensembl
Outerchr14:63471060..63504417hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387626
hg197626
hg187626
hg177626
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1306
Supporting Variants
SamplesNA19240
Known GenesMIR548AZ, SYNE2
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)nssv1200
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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