A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2003



Internal ID15546566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20142993..20187340hg38UCSC Ensembl
Outerchr17:20046306..20090653hg19UCSC Ensembl
Outerchr17:19986898..20031245hg18UCSC Ensembl
Outerchr17:19986898..20031245hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3844348
hg1944348
hg1844348
hg1744348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2167
SamplesNA18555
Known GenesSPECC1
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)nsv2003
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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