A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535299



Internal ID15155228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11809400..11903459hg38UCSC Ensembl
Innerchr19:11920215..12014274hg19UCSC Ensembl
Innerchr19:11781215..11875274hg18UCSC Ensembl
Innerchr19:11781215..11875274hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3894060
hg1994060
hg1894060
hg1794060
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458356
Supporting Variants
Samples1780846321_A
Known GenesZNF439, ZNF440, ZNF69
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv535299
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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