A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465196



Internal ID15178575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149192999..149250188hg38UCSC Ensembl
Innerchr7:148890091..148947279hg19UCSC Ensembl
Innerchr7:148521024..148578212hg18UCSC Ensembl
Innerchr7:148327739..148384927hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3857190
hg1957189
hg1857189
hg1757189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541047
Samples1780862101_A
Known GenesZNF212, ZNF282
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)nsv465196
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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