A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2919



Internal ID15194950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:61783845..61818223hg38UCSC Ensembl
Outerchr14:62250563..62284941hg19UCSC Ensembl
Outerchr14:61320316..61354694hg18UCSC Ensembl
Outerchr14:61320316..61354694hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
hg175599
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1301
Supporting Variants
SamplesNA18555
Known GenesSNAPC1
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)nssv2919
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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