A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460895



Internal ID15174274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:27445496..27605187hg38UCSC Ensembl
Innerchr1:27772009..27931698hg19UCSC Ensembl
Innerchr1:27644596..27804285hg18UCSC Ensembl
Innerchr1:27456151..27615840hg17UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38159692
hg19159690
hg18159690
hg17159690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv14n27
Supporting Variantsnssv537376
Samples1780854103_A
Known GenesAHDC1, WASF2
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)nsv460895
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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