A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540452



Internal ID15507784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72275473..72352914hg38UCSC Ensembl
Innerchr7:71740458..71817899hg19UCSC Ensembl
Innerchr7:71378394..71455835hg18UCSC Ensembl
Innerchr7:71185109..71262550hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3877442
hg1977442
hg1877442
hg1777442
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464556
Supporting Variants
SamplesHGDP00716
Known GenesCALN1
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)nssv540452
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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