A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591323



Internal ID16378732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113947810..113948545hg38UCSC Ensembl
Innerchr3:113666657..113667392hg19UCSC Ensembl
Innerchr3:115149347..115150082hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38736
hg19736
hg18736
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8511n54
Supporting Variantsnssv971595, nssv971596, nssv971602, nssv971591, nssv971589, nssv971587, nssv971600, nssv971603, nssv971601, nssv971598, nssv971588, nssv971597, nssv971586, nssv971594, nssv971583, nssv971604, nssv971585, nssv971590, nssv971599, nssv971593, nssv971584, nssv971592
Samples
Known GenesZDHHC23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591323
Frequency
Sample Size17421
Observed Gain20
Observed Loss2
Observed Complex0
Frequencyn/a


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