A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537743



Internal ID15512741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45173674..45263029hg38UCSC Ensembl
Innerchr4:45175691..45265046hg19UCSC Ensembl
Innerchr4:44870448..44959803hg18UCSC Ensembl
Innerchr4:45016619..45105974hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3889356
hg1989356
hg1889356
hg1789356
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461349
Supporting Variants
SamplesNINDS_58
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)nssv537743
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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