A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464257



Internal ID15177636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2629953..2705490hg38UCSC Ensembl
Innerchr7:2669587..2745124hg19UCSC Ensembl
Innerchr7:2636113..2711650hg18UCSC Ensembl
Innerchr7:2442828..2518365hg17UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3875538
hg1975538
hg1875538
hg1775538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540199
SamplesHGDP00852
Known GenesAMZ1, TTYH3
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)nsv464257
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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