A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543216



Internal ID15165491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:210681473..210702850hg38UCSC Ensembl
Innerchr1:210854815..210876192hg19UCSC Ensembl
Innerchr1:208921438..208942815hg18UCSC Ensembl
Innerchr1:207243210..207264587hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3821378
hg1921378
hg1821378
hg1721378
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468083
Supporting Variants
SamplesNINDS_21
Known GenesKCNH1
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)nssv543216
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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