A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535130



Internal ID15157853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:60072566..60627473hg38UCSC Ensembl
Innerchr18:57739798..58294706hg19UCSC Ensembl
Innerchr18:55890778..56445686hg18UCSC Ensembl
Innerchr18:55890778..56445686hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38554908
hg19554909
hg18554909
hg17554909
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458092
Supporting Variants
Samples1782681294_A
Known GenesMC4R
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)nssv535130
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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