A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2044



Internal ID15546607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38589578..38624381hg38UCSC Ensembl
Outerchr17:36745831..36780634hg19UCSC Ensembl
Outerchr17:33999357..34034160hg18UCSC Ensembl
Outerchr17:33999357..34034160hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg384936
hg194936
hg184936
hg174936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4264
SamplesNA12878
Known GenesSRCIN1
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)nsv2044
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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