A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2204



Internal ID15194801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:861414..882157hg38UCSC Ensembl
Outerchr19:861414..882157hg19UCSC Ensembl
Outerchr19:812414..833157hg18UCSC Ensembl
Outerchr19:812414..833157hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386808
hg196808
hg186808
hg176808
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2385
Supporting Variants
SamplesNA18555
Known GenesCFD, MED16
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)nssv2204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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