A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7334



Internal ID15189844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50395760..50440847hg38UCSC Ensembl
Outerchr17:48473121..48518208hg19UCSC Ensembl
Outerchr17:45828120..45873207hg18UCSC Ensembl
Outerchr17:45828120..45873207hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3845088
hg1945088
hg1845088
hg1745088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2080
Supporting Variants
SamplesNA12156
Known GenesACSF2, LRRC59
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)nssv7334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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