A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536069



Internal ID15502737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129407946..129662794hg38UCSC Ensembl
Innerchr2:130165519..130420367hg19UCSC Ensembl
Innerchr2:129881989..130136837hg18UCSC Ensembl
Innerchr2:129881749..130136597hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38254849
hg19254849
hg18254849
hg17254849
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459285
Supporting Variants
Samples1780854511_A
Known Genes
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)nssv536069
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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