A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536584



Internal ID15513050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:166063920..166080902hg38UCSC Ensembl
Innerchr2:166920430..166937412hg19UCSC Ensembl
Innerchr2:166628676..166645658hg18UCSC Ensembl
Innerchr2:166745937..166762919hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3816983
hg1916983
hg1816983
hg1716983
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459936
Supporting Variants
SamplesNINDS_99
Known GenesSCN1A
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)nssv536584
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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