A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1300



Internal ID15199177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:61737786..61782490hg38UCSC Ensembl
Outerchr14:62204504..62249208hg19UCSC Ensembl
Outerchr14:61274257..61318961hg18UCSC Ensembl
Outerchr14:61274257..61318961hg17UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3844705
hg1944705
hg1844705
hg1744705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9203
SamplesNA12156
Known GenesHIF1A, HIF1A-AS2, SNAPC1
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)nsv1300
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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