A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540549



Internal ID15158013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:110677971..110814300hg38UCSC Ensembl
Innerchr7:110318027..110454356hg19UCSC Ensembl
Innerchr7:110105263..110241592hg18UCSC Ensembl
Innerchr7:109911978..110048307hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38136330
hg19136330
hg18136330
hg17136330
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464673
Supporting Variants
Samples1798860072_A
Known GenesIMMP2L
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)nssv540549
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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