A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541065



Internal ID15166158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152330539..152373073hg38UCSC Ensembl
Innerchr7:152027624..152070158hg19UCSC Ensembl
Innerchr7:151658557..151701091hg18UCSC Ensembl
Innerchr7:151465272..151507806hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3842535
hg1942535
hg1842535
hg1742535
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465225
Supporting Variants
SamplesNINDS_7
Known GenesKMT2C
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)nssv541065
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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