A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464713



Internal ID8491760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128805212..128881377hg38UCSC Ensembl
Innerchr7:128445266..128521431hg19UCSC Ensembl
Innerchr7:128232502..128308667hg18UCSC Ensembl
Innerchr7:128039217..128115382hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3876166
hg1976166
hg1876166
hg1776166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540577
SamplesHGDP00602
Known GenesATP6V1F, CCDC136, FLNC, KCP, LOC100130705
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)nsv464713
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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