A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541079



Internal ID15509605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155174824..155187164hg38UCSC Ensembl
Innerchr7:154966534..154978874hg19UCSC Ensembl
Innerchr7:154597467..154609807hg18UCSC Ensembl
Innerchr7:154404182..154416522hg17UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3812341
hg1912341
hg1812341
hg1712341
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465243
Supporting Variants
SamplesHGDP01044
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)nssv541079
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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