A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538739



Internal ID15503494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7949573..7974634hg38UCSC Ensembl
Innerchr6:7949806..7974867hg19UCSC Ensembl
Innerchr6:7894805..7919866hg18UCSC Ensembl
Innerchr6:7894805..7919866hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3825062
hg1925062
hg1825062
hg1725062
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462626
Supporting Variants
Samples1780862304_A
Known GenesBLOC1S5-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)nssv538739
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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