A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540236



Internal ID15505867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7213144..7402538hg38UCSC Ensembl
Innerchr7:7252775..7442169hg19UCSC Ensembl
Innerchr7:7219300..7408694hg18UCSC Ensembl
Innerchr7:7026015..7215409hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38189395
hg19189395
hg18189395
hg17189395
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464301
Supporting Variants
SamplesHGDP00254
Known GenesC1GALT1, COL28A1, LOC101927354
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)nssv540236
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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