A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537600



Internal ID15512690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3428129..3449382hg38UCSC Ensembl
Innerchr4:3429856..3451109hg19UCSC Ensembl
Innerchr4:3399654..3420907hg18UCSC Ensembl
Innerchr4:3466825..3488078hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3821254
hg1921254
hg1821254
hg1721254
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461169
Supporting Variants
SamplesNINDS_51
Known GenesHGFAC, RGS12
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)nssv537600
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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