A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544270



Internal ID15511942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:7057068..7090857hg38UCSC Ensembl
Innerchr2:7197199..7230988hg19UCSC Ensembl
Innerchr2:7114650..7148439hg18UCSC Ensembl
Innerchr2:7147797..7181586hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3833790
hg1933790
hg1833790
hg1733790
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469394
Supporting Variants
SamplesNINDS_173
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)nssv544270
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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