A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462927



Internal ID15176306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42948182..43110718hg38UCSC Ensembl
Innerchr6:42915920..43078456hg19UCSC Ensembl
Innerchr6:43023898..43186434hg18UCSC Ensembl
Innerchr6:43023898..43186434hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38162537
hg19162537
hg18162537
hg17162537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538984
SamplesNINDS_266
Known GenesCUL7, GNMT, KLC4, KLHDC3, MEA1, MRPL2, PEX6, PPP2R5D, PTK7, RRP36
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)nsv462927
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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