A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540072



Internal ID15158162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155109822..155225189hg38UCSC Ensembl
Innerchr1:155082298..155194980hg19UCSC Ensembl
Innerchr1:153348922..153461604hg18UCSC Ensembl
Innerchr1:151895371..152008053hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38115368
hg19112683
hg18112683
hg17112683
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464084
Supporting Variants
Samples1798860443_A
Known GenesDPM3, EFNA1, GBAP1, KRTCAP2, MIR92B, MTX1, MUC1, SLC50A1, THBS3, TRIM46
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)nssv540072
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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