A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv744



Internal ID15205763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44514108..44547577hg38UCSC Ensembl
Outerchr1:44979780..45013249hg19UCSC Ensembl
Outerchr1:44752367..44785836hg18UCSC Ensembl
Outerchr1:44648873..44682342hg17UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg386268
hg196268
hg186268
hg176268
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4160
SamplesNA12878
Known GenesMIR5584, RNF220
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)nsv744
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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