A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464704



Internal ID15524769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:119318926..119493141hg38UCSC Ensembl
Innerchr7:118958980..119133195hg19UCSC Ensembl
Innerchr7:118746216..118920431hg18UCSC Ensembl
Innerchr7:118552931..118727146hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38174216
hg19174216
hg18174216
hg17174216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540572
SamplesNINDS_189
Known Genes
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)nsv464704
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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