A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464242



Internal ID15177621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:85111..200682hg38UCSC Ensembl
Innerchr7:85111..200682hg19UCSC Ensembl
Innerchr7:180194..295765hg18UCSC Ensembl
Innerchr7:180194..295765hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38115572
hg19115572
hg18115572
hg17115572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540187
SamplesHGDP00064
Known GenesFAM20C, LOC100507642
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)nsv464242
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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