A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1217



Internal ID15197826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91289623..91306547hg38UCSC Ensembl
Outerchr14:91755967..91772891hg19UCSC Ensembl
Outerchr14:90825720..90842644hg18UCSC Ensembl
Outerchr14:90825720..90842644hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg387447
hg197447
hg187447
hg177447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1395
Supporting Variants
SamplesNA19240
Known GenesCCDC88C
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)nssv1217
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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