A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464611



Internal ID15177990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82294125..82297492hg38UCSC Ensembl
Innerchr7:81923441..81926808hg19UCSC Ensembl
Innerchr7:81761377..81764744hg18UCSC Ensembl
Innerchr7:81568092..81571459hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383368
hg193368
hg183368
hg173368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540504
SamplesHGDP00759
Known GenesCACNA2D1
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)nsv464611
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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