A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540581



Internal ID15166352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129757804..129805111hg38UCSC Ensembl
Innerchr7:129397644..129444951hg19UCSC Ensembl
Innerchr7:129184880..129232187hg18UCSC Ensembl
Innerchr7:128991595..129038902hg17UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3847308
hg1947308
hg1847308
hg1747308
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464721
Supporting Variants
SamplesNINDS_98
Known GenesMIR182, MIR183, MIR96
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)nssv540581
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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