A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540589



Internal ID15503461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137671905..137720035hg38UCSC Ensembl
Innerchr7:137356651..137404781hg19UCSC Ensembl
Innerchr7:137007191..137055321hg18UCSC Ensembl
Innerchr7:136813906..136862036hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3848131
hg1948131
hg1848131
hg1748131
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464731
Supporting Variants
Samples1780862299_A
Known GenesDGKI
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)nssv540589
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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