A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7598



Internal ID15189580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200270658..200315985hg38UCSC Ensembl
Outerchr2:201135381..201180708hg19UCSC Ensembl
Outerchr2:200843626..200888953hg18UCSC Ensembl
Outerchr2:200960887..201006214hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3845328
hg1945328
hg1845328
hg1745328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3107
Supporting Variants
SamplesNA12156
Known GenesSPATS2L
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)nssv7598
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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