A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465213



Internal ID15178592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150909200..150970122hg38UCSC Ensembl
Innerchr7:150606288..150667210hg19UCSC Ensembl
Innerchr7:150237221..150298143hg18UCSC Ensembl
Innerchr7:150043936..150104858hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3860923
hg1960923
hg1860923
hg1760923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541056
SamplesHGDP01027
Known GenesKCNH2
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)nsv465213
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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