A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462624



Internal ID15522689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:7580725..7666433hg38UCSC Ensembl
Innerchr6:7580958..7666666hg19UCSC Ensembl
Innerchr6:7525957..7611665hg18UCSC Ensembl
Innerchr6:7525957..7611665hg17UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg3885709
hg1985709
hg1885709
hg1785709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538737
Samples1780854485_A
Known GenesDSP, SNRNP48
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)nsv462624
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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