A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464247



Internal ID15177626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1388817..1554022hg38UCSC Ensembl
Innerchr7:1428453..1593658hg19UCSC Ensembl
Innerchr7:1394979..1560184hg18UCSC Ensembl
Innerchr7:1201694..1366899hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38165206
hg19165206
hg18165206
hg17165206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540191
Samples1780862127_A
Known GenesINTS1, MAFK, MICALL2, TMEM184A
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)nsv464247
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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