A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540420



Internal ID15160074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62953169..64054437hg38UCSC Ensembl
Innerchr7:62413547..63514815hg19UCSC Ensembl
Innerchr7:62050982..63152250hg18UCSC Ensembl
Innerchr7:61857697..62958965hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381101269
hg191101269
hg181101269
hg171101269
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464513
Supporting Variants
SamplesHGDP00551
Known GenesLINC01005, LOC100287704, LOC100287834, MIR4283-1, MIR4283-2, ZNF727, ZNF733P
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)nssv540420
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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