A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538972



Internal ID15503511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37534809..37549709hg38UCSC Ensembl
Innerchr6:37502585..37517485hg19UCSC Ensembl
Innerchr6:37610563..37625463hg18UCSC Ensembl
Innerchr6:37610563..37625463hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3814901
hg1914901
hg1814901
hg1714901
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462914
Supporting Variants
Samples1780862306_A
Known Genes
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)nssv538972
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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