A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464664



Internal ID15524729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102385213..102473462hg38UCSC Ensembl
Innerchr7:102025660..102113909hg19UCSC Ensembl
Innerchr7:101812662..101900914hg18UCSC Ensembl
Innerchr7:101619377..101707629hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3888250
hg1988250
hg1888253
hg1788253
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540541
SamplesNINDS_222
Known GenesALKBH4, LOC100630923, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, PRKRIP1
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)nsv464664
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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