A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16481602



Internal ID19345162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45075421..45075421hg38UCSC Ensembl
chr17:43152789..43152789hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3658221
Supporting Variants
Samples
Known GenesNMT1
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)essv16481602
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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