A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464419



Internal ID15524484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31123389..31180224hg38UCSC Ensembl
Innerchr7:31163003..31219838hg19UCSC Ensembl
Innerchr7:31129528..31186363hg18UCSC Ensembl
Innerchr7:30936243..30993078hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3856836
hg1956836
hg1856836
hg1756836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540337
SamplesNINDS_13
Known Genes
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)nsv464419
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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