A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541085



Internal ID15157179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:156944011..157023277hg38UCSC Ensembl
Innerchr7:156736705..156815971hg19UCSC Ensembl
Innerchr7:156429466..156508732hg18UCSC Ensembl
Innerchr7:156236181..156315447hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3879267
hg1979267
hg1879267
hg1779267
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465249
Supporting Variants
Samples1780862444_A
Known GenesMNX1, MNX1-AS1, NOM1
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)nssv541085
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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