A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462625



Internal ID15176004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7868633..7906906hg38UCSC Ensembl
Innerchr6:7868866..7907139hg19UCSC Ensembl
Innerchr6:7813865..7852138hg18UCSC Ensembl
Innerchr6:7813865..7852138hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3838274
hg1938274
hg1838274
hg1738274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538738
SamplesHGDP01023
Known GenesBLOC1S5-TXNDC5, BMP6, TXNDC5
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)nsv462625
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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