A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2232



Internal ID15194829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47877990..47900191hg38UCSC Ensembl
Outerchr19:48381247..48403448hg19UCSC Ensembl
Outerchr19:53073059..53095260hg18UCSC Ensembl
Outerchr19:53073059..53095260hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3822202
hg1922202
hg1822202
hg1722202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2513
Supporting Variants
SamplesNA18555
Known GenesSULT2A1
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)nssv2232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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