A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533316



Internal ID15157085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:26734217..26789551hg38UCSC Ensembl
Innerchr13:27308354..27363688hg19UCSC Ensembl
Innerchr13:26206354..26261688hg18UCSC Ensembl
Innerchr13:26206354..26261688hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3855335
hg1955335
hg1855335
hg1755335
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455849
Supporting Variants
Samples1780862415_A
Known GenesGPR12
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)nssv533316
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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