A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464717



Internal ID8491764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128832927..128876891hg38UCSC Ensembl
Innerchr7:128472981..128516945hg19UCSC Ensembl
Innerchr7:128260217..128304181hg18UCSC Ensembl
Innerchr7:128066932..128110896hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3843965
hg1943965
hg1843965
hg1743965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540580
SamplesHGDP01215
Known GenesATP6V1F, 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)nsv464717
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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