A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464518



Internal ID15177897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:64420860..65046526hg38UCSC Ensembl
Innerchr7:63881238..64506904hg19UCSC Ensembl
Innerchr7:63518673..64144339hg18UCSC Ensembl
Innerchr7:63325388..63951054hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38625667
hg19625667
hg18625667
hg17625667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540424
SamplesNINDS_207
Known GenesCCT6P3, ERV3-1, LOC100128885, LOC641746, MIR6839, YWHAEP1, ZNF107, ZNF117, ZNF138, ZNF273, ZNF680
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)nsv464518
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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