A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2995



Internal ID15194864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34245240..34246558hg38UCSC Ensembl
Outerchr19:34736145..34737463hg19UCSC Ensembl
Outerchr19:39427985..39429303hg18UCSC Ensembl
Outerchr19:39427985..39429303hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg386385
hg196385
hg186385
hg176385
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2468
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2995
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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