A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2075



Internal ID15199952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49330655..49355748hg38UCSC Ensembl
Outerchr17:47408017..47433110hg19UCSC Ensembl
Outerchr17:44763016..44788109hg18UCSC Ensembl
Outerchr17:44763016..44788109hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3825094
hg1925094
hg1825094
hg1725094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7332
SamplesNA12156
Known GenesZNF652
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)nsv2075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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