A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1539



Internal ID15545539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135306295..135345248hg38UCSC Ensembl
Outerchr2:136063865..136102818hg19UCSC Ensembl
Outerchr2:135780335..135819288hg18UCSC Ensembl
Outerchr2:135897597..135936550hg17UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3838954
hg1938954
hg1838954
hg1738954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2940
Supporting Variants
SamplesNA19240
Known GenesZRANB3
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)nssv1539
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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