A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1444



Internal ID15197576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29198755..29234024hg38UCSC Ensembl
Outerchr19:29689662..29724931hg19UCSC Ensembl
Outerchr19:34381502..34416771hg18UCSC Ensembl
Outerchr19:34381502..34416771hg17UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg385715
hg195715
hg185715
hg175715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2452
Supporting Variants
SamplesNA19240
Known GenesUQCRFS1
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)nssv1444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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