A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593



Internal ID15538321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149266500..149298634hg38UCSC Ensembl
Outerchr7:148963591..148995725hg19UCSC Ensembl
Outerchr7:148594524..148626658hg18UCSC Ensembl
Outerchr7:148401239..148433373hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3832135
hg1932135
hg1832135
hg1732135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6001
Supporting Variants
SamplesNA12878
Known GenesLOC155060, ZNF783
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)nssv3593
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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