A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540241



Internal ID15509902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8249075..8914228hg38UCSC Ensembl
Innerchr7:8288705..8953858hg19UCSC Ensembl
Innerchr7:8255230..8920383hg18UCSC Ensembl
Innerchr7:8061945..8727098hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38665154
hg19665154
hg18665154
hg17665154
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464308
Supporting Variants
SamplesHGDP01104
Known GenesICA1, NXPH1
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)nssv540241
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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