A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464300



Internal ID15177679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7000545..7329068hg38UCSC Ensembl
Innerchr7:7040176..7368699hg19UCSC Ensembl
Innerchr7:7006701..7335224hg18UCSC Ensembl
Innerchr7:6813416..7141939hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38328524
hg19328524
hg18328524
hg17328524
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540235
Samples1780862452_A
Known GenesC1GALT1, LOC100131257, LOC101927354
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)nsv464300
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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